# Disorders/Diseases/Oddities Thread



## GenociderSyo (Apr 11, 2021)

On this forum there are many things we run into in a medical sense that leads to some pretty long tangents to explain them. I brought up my interested in all things odd and curious in the medical sense in Historic Images and people seemed to think this thread would be interesting.

I will try to post a new disorder or something weekly, focusing on the rare and more unknown ones. I will also try to focus on ones that include images or videos so that it is more then just boring text.

Some definitions to know:
*Orphan Disease*
This will come up a lot and it refers to disorders and diseases that fit one of two categories:

Effects fewer then 200,000 people worldwide.
Diseases or disorders that are considered almost erradicated such as cholera and typhoid.
Feel free to bring up your own things you learn and want to ask questions about or share. If you want to request a disorder you've heard mentioned please do.



Spoiler: Quick Links to Posts



Alternating Hemiplegia of Childhood
Arthrogryposis Multiplex Congenita
Batten Disease
Bosma Arhinia Microphthalmia Syndrome - BAM Syndrome
Centronuclear Myopathy
Congenital Insensitivity to Pain with Anhidrosis (CIPA) AKA Hereditary Sensory and Autonomic Neuropathy Type IV
Conjoined/Siamese Twins
Cornelia de Lange Syndrome
Epidermolysis Bullosa
Fibrodysplasia Ossificans Progressiva
Hereditary Sensory and Autonomic Neuropathy Type IV AKA Congenital Insensitivity to Pain with Anhidrosis (CIPA)
Krabbe Leukodystrophy/Disease
Marshall Smith Syndrome
Morquio Syndrome/Mucopolysaccharidosis IV
Osteogenesis Imperfecta
Progressive Osseous Heteroplasia
Schimke Immuno-Osseous Dysplasia
Schwartz Jampel Syndrome
Thanatrophic Dysplasia




*Schwartz Jampel Syndrome 
(About 85 people world-wide are diagnosed with this)*​This disorder involves abnormalities of the skeletal muscles, leading to muscle weakness and stiffness, bone dysplasia, joint contractures and growth delays. Most with this disorder have obvious facial differences since the muscles are so tight that their eyes and mouths cannot fully open. It is usually diagnosed in infancy or early childhood due to its very obvious physical characteristics.

Mental development is generally normal in this disorder, so they are not going to be potatoes. Their muscles are constantly in a contracted state and they must fight against this state to do normal activities. The muscles are so contracted that they tend to have their hip-sockets easily dislocate.  Many will use wheelchairs since they cannot walk independently.

They also have issues with their eyes being smaller, having juvenile cataracts and/or having muscle spasms.  Most have issues with eyesight and as the muscles become tighter they become functionally blind due to inability to open eyes. They also have issues with speech being unnaturally high due to the throat and vocal chord muscles being effected.  They tend to have respiratory issues since once again our hearts and lungs are muscles.

In a paradox situation the usage of muscles relaxers and even anesthetics is counter to helping these individuals since a percentage respond to this with increases muscle tone and hyperthermia (high body temperature).

To have this disorder both your parents must be carriers and there is a very high chance once a child is born with this any subsequent children will have it. Interestingly enough studies in this disorder found out that the parents of people with it had a high chance of being blood relatives.  The disorder is caused by a mutation on the short arm of chromosome 1 which is what encodes for Perlecan which is what causes our muscles to function and cartilage to form.

Treatment for this disorder is to treat the various symptoms it causes.  All require at least some sort of chronic pain relief since your muscles constantly being contracted is extremely painful. They may need  surgeries to treat dysplasia, contractures and scoliosis. Most will require hip replacements in childhood. Problem of course is due to the paradoxal reaction some may not be able to be treated surgically at all.


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## The Real Me (Apr 11, 2021)

Exploding Head Syndrome is a condition in which before or right after falling asleep, the sufferer hears a loud auditory hallucination akin to an explosion or gunshot. Some people also experience a bright flash of light, though this is less common. Due to its nature, people with the condition can sometimes grow fearful of sleep and the condition itself is thought to be sometimes linked to epilepsy or PTSD though a true cause is unknown.


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## GenociderSyo (Apr 11, 2021)

The Real Me said:


> Exploding Head Syndrome is a condition in which before or right after falling asleep, the sufferer hears a loud auditory hallucination akin to an explosion or gunshot. Some people also experience a bright flash of light, though this is less common. Due to it’s nature, people with the condition can sometimes grow fearful of sleep and the condition itself is thought to be sometimes linked to epilepsy or PTSD though a true cause is unknown.


Interesting one! There is an article with a ton of case studies  on it from 1989 it is free to download the pdf to read it:
Clinical features of the exploding head syndrome

Looks like it can happen when waking up to....


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## contradiction of terns (Apr 11, 2021)

*Autoimmune progesterone dermatitis* (AIPD) is classified as a *rare* condition by the National Institutes of Health. According to a 2003 review, approximately 50 cases of AIPD had been reported in literature since 1921.

Further reading from Dermnetnz on APD

National Library of Medicine article outlining 3 cases of APD

Examples of various rashes associated with progesterone hypersensitivity.


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## Positron (Apr 12, 2021)

_Erythema gyratum repens _is a very rare form of ring- or spiral-shaped skin rash that is almost always associated with cancer.


Spoiler: could be disturbing


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## GenociderSyo (Apr 12, 2021)

Positron said:


> _Erythema gyratum repens _is a very rare form of ring- or spiral-shaped skin rash that is almost always associated with cancer.
> 
> 
> Spoiler: could be disturbing
> ...


The whirls are like a painting....


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## Vingle (Apr 12, 2021)

Positron said:


> _Erythema gyratum repens _is a very rare form of ring- or spiral-shaped skin rash that is almost always associated with cancer.
> 
> 
> Spoiler: could be disturbing
> ...


Aside from it being a sign you’re probably going to die soon, this marbling of the body is quite pretty.


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## GenociderSyo (Apr 12, 2021)

*Schimke Immuno-Osseous Dysplasia
(About 50 people world-wide are diagnosed with this)*​The first sign of this disorder people see is failure to grow. In its most severe form the life expectancy is around 10 years of age in its mildest about 50 years old. Since this is a multi system disorder they usually die due to stroke, infection, bone marrow failure, kidney failure, heart failure or lung issues. 

There are many symptoms seen this disorder which include fine hair, large nose, severe persistent migraines, disproportionate short stature due to bone abnormalities. brain-related light-sensitivity and hyper-pigmented macules (these are almost like skin tags yet larger, they look like the growths in neurofibramatosis. Their short stature is due to a specific issue known as spondyloepiphyseal dysplasia.  This causes poorly small displaced femurs and hip-sockets that are too shallow. Almost half have issues with their thyroids. All with this disorder have progressive untreatable kidney disease leading to renal failure. Since this failure is due to an issue with proteins kidney transplant does not solve things. Half have atheroscelrosis and this is untreatable with transplantation as well since their tissue itself is at fault.  The Central nervous system is also affected with there being structural issues in the brain itself and a lack of stem cells.  Development though is normal until the progressive cebral ischemia occurs. This leads to TIAs (mini strokes that take out one area) or full on strokes. This tends to lead to atrophy of the cerebellum, due to this Moyamoya diseases is common in patients. The migraines in this disorder became worse in response to anti-migraine medicine and it is believed there may be a cerebral vasoconstriction syndrome related to this.  They are all severely immunocompromised and their blood in response to drug therapies leads to toxic levels much easier. They do not respond or respond minimally to treatments to increase the immune system.  They are also at a higher risk for autoimmune disorders of the blood. 

This is another autosomal recessive disorder. It is genetic in nature, but not caused by chromosomal differences.  It is an issue with the enzyme SMARCAL1 that is used in DNA repair, DNA stress response, and the reannealing of single strand DNA to double strand DNA.  This causes non-random and global changes in gene expression. 

Treatment is mainly to deal with certain symptoms that occur. Transplants may be attempted for renal and bone marrow issues, but they may not be successful. Blood thinners may also be used to attempt to stall TIAs and strokes.


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## Agent Abe Caprine (Apr 12, 2021)

My favorite horror is fibrodysplasia ossificans progressiva. It's a rare disease that can turn tissue to bone.


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## GenociderSyo (Apr 12, 2021)

Agent Abe Caprine said:


> My favorite horror is fibrodysplasia ossificans progressiva. It's a rare disease that can turn tissue to bone.


Yep planning to do a post on that at some time, have a LOT of resources on it since one of the students in the school had it had to learn how to best work with them.


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## Job the Long-Suffering (Apr 15, 2021)

The Real Me said:


> Exploding Head Syndrome is a condition in which before or right after falling asleep, the sufferer hears a loud auditory hallucination akin to an explosion or gunshot. Some people also experience a bright flash of light, though this is less common. Due to its nature, people with the condition can sometimes grow fearful of sleep and the condition itself is thought to be sometimes linked to epilepsy or PTSD though a true cause is unknown.



I really hate when people self diagnose and jump onto health conditions to make themselves feel special but...

That has definitely happened to me exactly as you describe more than a few times... I'll have to look into that.
I have several very strange sleep related issues and what's really strange about them is, because I'm barely conscious when I experience them, I very rarely check into them or even think about them when I'm awake.


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## The Real Me (Apr 15, 2021)

McCarthy said:


> I really hate when people self diagnose and jump onto health conditions to make themselves feel special but...
> 
> That has definitely happened to me exactly as you describe more than a few times... I'll have to look into that.
> I have several very strange sleep related issues and what's really strange about them is, because I'm barely conscious when I experience them, I very rarely check into them or even think about them when I'm awake.


Good luck with your research.


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## GenociderSyo (Apr 15, 2021)

@Agent Abe Caprine  FOP and its lesser known sister condition POH review commencing!

So i have worked with one teenager with this but it was not for long. It was in a special needs camp setting for the multiply disabled and it was decided by the higher ups that the liability was too much since the child was also fairly delayed and unable to understand safety measures.

*Fibrodysplasia Ossificans Progressiva 
(Of an estimated 4000 affected individuals worldwide, there are approximately 900 known patients)*​
This disorder causes a person's skeletal muscles and soft connective tissues to literally turn to bone via ossification. There is a usual progression that occurs fusion of joints which is neck  then back then shoulders then elbows then  hips then knees then wrists then ankles and then jaw. Though injuries can cause flare ups in any area and cause that to ossify first. Most casts of FOP are spontaneous and the condition is caused by a mutation in the ACVR1 gene responses for bone formation and repairs.








*FOP Toe 
(100% of patients present with this from birth)*​
Bone formation in this disorder begins as cartilage and turns into full on bone. It is progressive so occurs spontaneously, but also can be brought on by injury or even a common virus. Flareups are easily noticeable because the area will suddenly have a firm swelling and be warm to teh touch, some individuals have fevers that are a precursor to flareups.  There is a spectrum to the progression of this disorder some seeing gradual and some seeing rapid growth of bone. Bone development can block off the lymphatic system as well as affecting bloodflow.

The most severe cases of FOP result in completely immobilization as their spine ossifies and entrapment neurapothies occur. This leads to respiratory issues and heart issues. Hearing is also affected in half of cases and the most severe forms can lead to hair loss and mild cognitive issues.

Sadly before FOP was well known the first thing done on swelling was to biopsy them. This lead to rabid bone formation in those areas. People with FOP also cannot get immunizations that are intramuscular. Dental therapy is an issue because local anesthetics can cause bone growth and any stretching of the jaw. Various viral illnesses including influenza and influenza-like illnesses may provoke flare-ups of the condition.

People with FOP have to make a decision that you wouldn't even think of. They have to choose as the diseases progresses if they wish their bones to keep them in a bent over seated position or a flat out laying down/standing up position.

*History of FOP*​

In 1692:
French physician Guy Patin met with a patient who had FOP and mentioned the encounter in his writings. He referred to the man as "Turning into Wood"

In 1736*:*
British physician John Freke described at length an adolescent whose diagnosis included hard swellings throughout his back*.*

In the 1900s:
The disease became known as myositis ossificans progressiva, which means "muscle turns progressively to bone"

In the 1970s:
The name was officially modified to fibrodysplasia ossificans progressiva (FOP) by the late Dr. Victor McKusick of Johns Hopkins University School of Medicine, who is considered the father of medical genetics. The new name better reflects that other soft (or fibrous) tissues in addition to muscle (for example tendons and ligaments) are replaced by bone.

In 1989:
FOP Collaborative Research Project established at the University of Pennsylvania School of Medicine by Drs. Frederick Kaplan and Michael Zasloff

In 1990:
1st FOP Natural History Study conducted by Drs. Kaplan and Zasloff

In 1991:
Dr. Eileen Shore joins the University of Pennsylvania FOP research group

In 1992:
FOP Molecular Biology Laboratory established at the University of Pennsylvania

In 1993:
Natural History of Heterotopic Ossification in Patients with FOP, a Study of 44 Patients published by Drs. Kaplan and Zasloff

In 1994:
Dr. Kaplan awarded Johnson & Johnson Orthopaedics Research Grant for “Molecular Pathogenesis of Heterotopic Ossifications in FOP and in a Transgenic Animal Model”
National Institutes of Health (NIH) Research Grant provides $200,000 annually for 3 years for FOP research

In 1997:
Dr. Kaplan awarded the Isaac and Rose Nassau Professorship of Orthopaedic Molecular Medicine at the University of Pennsylvania School of Medicine, established by Diane Weiss in memory of her parents
NIH Research Grant renewed for 4 years
FOP Research Lab collaborates with scientists from University of California-Berkeley, Oxford University and Association Francaise Contre Les Myopathies

In 2000:
Human Genome Project completed

In 2002:
Phase I Clinical Trial for safety & efficacy of Squalamine, sponsored by Magainin Pharmaceuticals. Protocol was complex and no patients enrolled
Dr David Glaser joins the University of Pennsylvania FOP Research Group

In 2006:
After 15 years of painstaking research, the FOP research team, led by the University of Pennsylvania School of Medicine, along with their international collaborators, pinpointed a single gene mutation -- one letter out of six billion in the human genome -- that causes the runaway bone growth of FOP.
Recurrent Mutation in the BMP Type I Receptor ACVR1 Causes Inherited and Sporadic FOP published in Nature Genetics

In 2009:
Dr. Kaplan elected to the Institute of Medicine

In 2010:
Survey of neurological symptoms in FOP conducted by Dr. Joseph Kitterman

In 2012:
University of Pennsylvania FOP Natural History Survey conducted to understand the natural progression of FOP
Neurological Symptoms in Individuals with FOP by Dr. Joseph Kitterman and others published in the Journal of Neurology

In 2013:
FOP research is international with 25 venues studying FOP. Primary work is located at the University of Pennsylvania Center for Research & Related Disorders in FOP.
University of Pennsylvania conducts an international FOP Flare-Up Survey

In 2014:
Clementia Pharmaceuticals, Inc. begins a Phase 2 clinical trial of palovarotene, an experimental RAR gamma agonist, in adults with FOP.

In 2016:
Clementia Pharmaceuticals, Inc. Phase 2 clinical trial of palovarotene in adults is completed and enrollment of children ages 6 to 14 years begins
The International Clinical Council on FOP is formed

In 2017:
Dr. Robert Pignolo begins seeing FOP patients at the Mayo Clinic
Kyoto University researchers begin the world’s first clinical trial of a drug identified using iPS cells for those living with FOP in Japan
Two pharmaceutical companies have drugs that are registered for worldwide FOP clinical trials - Clementia's MOVE trial and Regneron's LUMINA-1 trial
Clementia's MOVE trial enrolls its first patient

In 2018:
Regeneron's LUMINA-1 trial enrolls its first patient







*Mütter Museum FOP Skeleton -Harry Raymond Eastlack*

Really good Documentary on it:





There is also one called "The Human Mannequin" but it appears to no longer be avaiable off of BBC.

There are some guidebooks in the attachments for further reading.



























Resources:
International Fibrodysplasia Ossificans Progressiva Association
FOP Friends


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## GenociderSyo (Apr 15, 2021)

You all get a double today cause I ran into this sister condition on  the IFOPA website:

*Progressive Osseous Heteroplasia
(About 50 Cases Worldwide)*​This disorder begins with ossification of the skin during infancy. It then moves onto subcutaneous fat, muscles, tendons, ligaments, and the fascia. The course of this disease is not predictable and it may only affect one area or be all over. Not much is known  yet of the cause of this disorder but it is beleived to be an issue in the gene GNAS. This gene is involved in producing a protein that regaulates proteins for bone growth and direct cell fate decisions.

This disorder tends to progress slowly and asymmetrically. The skin that is ossifying at first feels rough and these areas may merge together or remain separate. As progression continues deeper portions ossify as well. This disorder causes sharp, needle-like projections of bone to break through the surface of the skin, causing irritation or superficial infection.

As the bone growth progresses joints lose range of motin and may fully lock. The bones may also have restricted growth leading to assymetrical limbs. Some patients only have one side effected and others the entire body. This bone growth does not have the warning signs that FOP does and is mainly spontaneous. 

There is a handbook in attachments for this disorder as well.














​


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## Spunt (Apr 15, 2021)

Fatal Familial Insomnia is probably the only other condition that terrifies me as much as Fibrodysplasia Ossificans Progressiva. It's a prion disease that causes brain degeneration and like other prion diseases our understanding of its causes is minimal (other than there is a genetic factor, but not everyone with the gene gets it - something methylates the gene and we have no idea what) and there is no cure, and barely any treatment - some animal trials suggest amphetamines might slow it down a bit. That's all. Fortunately the mutation is vanishingly rare (only 40 families worldwide are believed to carry it) and if you don't have that gene you won't get this disease. Thank fuck.

In short: you stay awake until you go insane and die. The part of your brain that governs sleep has turned into useless sponge, so you 100% are physiologically incapable of sleep. On average, people who die from this will not have slept, at all, for nine months. They will have slept very badly for about 9 months before that as well. By the end, most people are in a permanent mute, catatonic state after months of 24/7 panic and madness. Whilst on average it takes 18 months to kill you after diagnosis, some people survive for *six years.*

Medically-induced comas don't work. Whilst they will knock you unconscious, the brain is not asleep and does not perform the regenerative functions that sleep provides, and they will be just as insane on being roused - and probably dreaming equally awful things as they would when awake.

There are two diseases that if I were diagnosed with them would cause me to suck-start a shotgun while I still could - FOP and this. Whilst mankind has come up with many brutal, horrifying and drawn-out ways of torturing and killing each other, it seems that out own biology makes even the most sadistic torquemadas seem like a gentle little kitten.


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## GenociderSyo (Apr 15, 2021)

Some really good documentaries on Fatal Familial Insomnia:


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## Madre Muerte (Apr 15, 2021)

I ain't sleeping after reading this thread. Still interesting though, keep it up.


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## NerdShamer (Apr 17, 2021)

You know for all the shit that you can born with, none of them can trump being born from when your parents are cousins who are too horny to fuck someone else.






The star of the show is blind from an early age, severely retarded, and he wants to drive car, despite being blind.

And this is the end result of a few generations of inbreeding.

Who do they blame? It's the doctors.


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## GenociderSyo (Apr 17, 2021)

NerdShamer said:


> You know for all the shit that you can born with, none of them can trump being born from when your parents are cousins who are too horny to fuck someone else.
> 
> 
> 
> ...


Sadly I've seen at least 2 other documentaries  on the same subject.


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## verygayFrogs (Apr 17, 2021)

Once I saw a little girl with a huge hairy birthmark on her face. Ironically over the same eye I was dealing with Bells Palsy in (long story short on that one, a cold decided to play baby object permanence and so my body attacked itself leaving me unable to blink in that eye for a bit.) I think that was called werewolf disease, let me check


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## GenociderSyo (Apr 17, 2021)

Probly Congenital Nevus (They can be pre-cancer as well then it is Congenital Melanocytic Nevus):




The balloon method to remove them may be worse then the birthmark itself (This one had CMN so it was removed to save her life before it became full on cancer):


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## GenociderSyo (Apr 25, 2021)

*Arthrogryposis Multiplex Congenita
(AMC affects approximately 1 in 3,000 individuals)*​
Arthrogryposis itself means a nonprogressive contracture affecting an areas of the body prior to birth. Contractures are when a a joint becomes permanently fixed in either a bent or straightened position, which completely or partially restricts movement of the joint. Arthrogryposis Multiplex Congenita (AMC) is when there is arthrogryposis of more then one area.

The joints most affected are the legs and arms with the legs being affected more often. The most common joints affected are the shoulders, elbows, knees, wrists, ankles, fingers, toes, and/or hips. In rarer cases, the jaws and back may also be affected. This disorder is a spontaneous condition and does not run in families.

The contractures since they begin before birth leads to affected muscles being undeveloped. This leads to tube-shaped limbs with a soft, doughy feeling. Some common co-occuring symptoms may also include abnormally slender and fragile long bones and cleft palate. About 30% of individuals may also have central nervous system abnormalities. AMC can also be seen associated with severe hypotonia (lax muscles with little strength). The abnormal development of connective tissue in the joints can restrict fetal movements, potentially causing multiple contractures. A lack of joint development or the abnormal fusion of bones (synostosis) that are normally separate have also been associated with multiple congenital contractures.

The most common form of AMC is Amyoplasia which has multiple contractures of the joints, usually having all 4 limbs affected.
In this form of AMC The shoulders may be internally rotated and drawn inward (adducted), the elbows are usually extended, and the wrists are usually flexed with flexed and stiff fingers. In many the distal joints (those farthest from the torso) are usually more severely affected, the shoulders and hips also often have significant contractures. These individuals usually have severe clubfoot and some have dislocated hips.
Intelligence is not affected due to this disorder nor are there craniofacial or visceral (organ related) abnormalities.

The other subgroup that is common is distal arthrogryposes. This is characterized by multiple congenital contractures and once again affects the distal joints. At least 10 different forms of distal arthrogryposis have been identified including Freeman-Sheldon syndrome, Gordon syndrome, trismus-pseudocamptodactyly syndrome, multiple pterygium syndrome and Sheldon-Hall syndrome.

In most cases of AMC, the exact cause of the contractures cannot be identified. This is due to AMC being a physical finding associated with numerous disorders and conditions. The primary underlying reason that leads to congenital contractures is believed to be decreased fetal movement during development. The joints begin to develop in a fetus around five or six weeks into pregnancy. Motion is essential for the proper development of fetal joints. A lack of fetal movement allows for excess connective tissue to form around the joints, which can result in the joint becoming fixed and/or limiting the movement of a joint. This can be caused by fetal crowding in multiple birth or uterine structural abnormality situations. If it is deemed to be due to genetic differences then there is a 50 percent change to have another child with the same disorder.

Treatment of AMC involved standard physical therapy in the newborn period to improve joint motion and avoid muscle atrophy. Removable splints for the knees and feet that permit regular muscle movement and exercise are also recommended. Serial casting to mobilize stiff joints is helpful in most cases. Surgery may be necessary to achieve better positioning and increase the range of motion in certain joints, especially the ankles, knees, hips, elbows, or wrists.

"Treatment for arthrogryposis usually involves: stretching (to increase joint range of motion), physical therapy to work on overall strength and gross motor skills (walking, standing), occupational therapy to work on fine motor skills and self-help skills (grasping, feeding), speech therapy to work on speech and oral motor skills, serial casting (including the Ponseti Method for clubfeet), splinting, bracing (AFO's, KAFO's) and orthopedic surgery (osteotomies (bone cuts) to change angle or rotation of a bone, soft tissue releases (releasing and lengthening tight muscles and tendons), muscle/tendon transfers (changes what body part a muscle/ tendon moves) and external fixators (metal frames that are applied over a deformity that is exceptionally rigid/tight and needs to be corrected slowly or to lengthen short bones). Some individuals opt for through the knee amputation. There are other therapies as well: hippo therapy (using horses for therapy), aqua therapy (therapy in a warm water pool) and massage therapy to name a few."


*History of AMC*​

1642
An oil painting that resides in the Musée du Louvre in Paris called “The Clubfoot (also known as The Club-Footed Boy by Jusepe de Ribera.




1822
Guerin added the concept of congential extremities.

1841
An anatomist named Adolph Wilhelm Otto described a case of congenital myodystrophy.




1897
Schantz subsequently termed “multiple congenial contractures.

1905
E. Rosenkraz collected 56 cases that were similar in nature and labeled them arthrogryposis.

1913
Rocher termed the process as “multiple congenital articular rigidities”.

1923
WB Stern coined the phrase “arthrogryposis multiplex congenital (AMC)”

1925
Lewn reviewed the orthopedic characteristics of the disease and used the term arthrogryposis multiplex congenital (AMC) in reporting his clinical cases.

1932- 1934
Sheldon described clinical features of congential multiple contractures in child and used for the first time the name “amyoplasia congenita”.

1934
Middleton studied muscle tissues from patients and defined the disease as of muscular origin.

1947
Brant , Adams et al in 1953, Wolf and coworkers in 1955 attempted to define a neurological of myogenic cause for the entity.

1998
Dr. Hall was the first to define Amyoplasia (the most common form of arthrogryposis) and the book she co-edited called Arthrogryposis: A Text Atlas became the definitive publication on arthrogryposis (a condition where some or all joints have reduced range of motion).

"Babies born with arthrogryposis can have a very rough start in life. Many babies with AMC accidentally have their bones broken during delivery or during the neonatal period. The lack of movement can make their bones more brittle (this is not the same as brittle bone disease) and if the position of the contractures are not favorable for delivery (for example if a baby's hips are externally rotated and knees stuck in flexion) a lot of force may be needed to deliver them, resulting in fractured bones. The thighbones (femurs) and the upper arm bones (humerus) are common bones to be broken. Some babies have their limbs fractured immediately after birth because their medical team doesn't know how to move them yet. If AMC is detected before birth a c-section may be needed to try to avoid broken bones but even with a c-section it can still happen. Some kids continue to have fractures throughout childhood from accidental falls."

"Arthrogryposis is not considered progressive; it's as severe as it's going to get at birth, and the contractures won't worsen with time. It is however regressive in nature. This means that even after any type of treatment (even highly effective treatment whether it be surgical or non-surgical) the contractures/ deformity can re-occur. So a foot can go back into a clubbed position, a knee can get stuck in a flexed position again, a wrist can stop going to neutral again ect, this is also called relapse. Post-treatment bracing (like after casting or surgery) is very important to try to prevent relapse but even strict brace wear doesn't stop all relapses. Once a person stops growing the contractures are less likely to re-occur."



































Youtube Channel with Multiple Vlogs:
JulietaJule​
While reading about this I ran across an ingenuous new product that exists to increase independence in those with upper limb deficenices and deformities. "Obi is a first of its kind, revolutionary dining device for individuals who lack upper extremity function."









There is a handbook linked in attachments.


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## GenociderSyo (May 4, 2021)

*Thanatrophic Dysplasia
(1 in 60,000 births, Under 10 people with this disorder known to exist world wide, possibly only 3 or 4 still living)*​
Thanatrophic Dysplasia is the most extreme version of dwarfism a person can have. They have the appearance they do because the long bones do not form properly or may be completely absent. The appendages are EXTREMELY short. This used to be considered 100% fatal, but now with genetic testing it is known before birth and planning can occur to secure the airway since they all have issues with their breathing due to small chest/small airway. 80% to 100% of casees have an iq less then 20. They are conscious beings but most will never leave the intellecttual age of a young toddler. 0 to 20% are only mildly retarded. So regardless this child will at least be somewhat cognicant that she is different and very limited. It is a severe skeletal disorder characterized by extremely short limbs and folds of extra skin on the arms and legs. There is also a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes.

Almost all infants with thanatophoric dysplasia are stillborn or die shortly after birth from respiratory failure.  With extensive medical interventions a few have lived into early childhood.

The oldest person  known at the moment with this disorder is 10 years old. It took until he was 8 years old to be able to be weaned from the ventilator and he was weaned from trach at 10. He required spinal fusion and other surgeries as well to survive.






There was a journal article done in 2020 discussing the fact that now with medical interventions the term fatal that used to be always associated with this disorder should be rethought. The article focuses on the case study of the 10 year discussed previously.



Spoiler: Should We Stop Calling Thanatophoric Dysplasia a Lethal Condition? A Case Report of a Long-Term Survivor



*Abstract*

Thanatophoric dysplasia (TD) is a rare skeletal dysplasia commonly thought to be lethal. In this case report, we discuss a nine-year-old male with TD and review his parents' decision making shortly after their son was born, the technology needed to sustain him, and his parents' perception of his quality of life. We also summarize the clinical course of published long-term survivors with TD. Pediatric Palliative Care teams, especially those conducting perinatal palliative care consultations, are often asked to support families in the face of prognostic uncertainty. Our case report and review of the literature adds to the uncertainty of prognosis in TD and suggests that pediatric palliative care providers should be wary of the label “lethal.”

Introduction​Thanatophoric dysplasia (TD) is a skeletal dysplasia that was previously described to be incompatible with life. The term _thanatophoric_ is Greek for “death bearing.” Infants with this condition have extreme short stature, micromelia, a narrow chest, underdeveloped lungs, macrocephaly, and a small foramen magnum. Occurring in 1/20,000 to 1/50,000 births, it was understood to be lethal soon after birth due to difficulty with ventilation and development of respiratory failure.1–4 There are very few reports of patients who have survived beyond the first few days of life; therefore, families faced with this diagnosis are typically counseled to consider pregnancy termination and/or comfort care at birth. However, with advances in technology, survival can be possible for some. This makes counseling around prognosis and expected clinical course challenging for families faced with a perinatal diagnosis of TD.

In this brief report, we describe the case of a boy with thanatophoric dysplasia type 1 (TD1) and review the medical decisions the family faced. We also summarize the clinical course of published long-term survivors with TD. Both serve not only as prognostic guides for this specific condition but also to illustrate themes that emerge when providing palliative care for children with diseases commonly labeled as “lethal.” The family gave permission for their child's name and story to be shared.
Case Description​Charlie was born to a 33-year-old gravida 7 para 3 mother and a 33-year-old father. Pregnancy was complicated by polyhydramnios and features suggestive of TD by anatomical ultrasound. Amniocentesis identified a c.742C>T (p.R248C) mutation in _FGFR3_, consistent with a diagnosis of TD1. Charlie's mother recalls being given the diagnosis by a high-risk obstetrician and a genetic counselor who both counseled that, if she were to carry to term, the infant would not make it out of the delivery room alive and, therefore, offered termination of the pregnancy. After connecting with two families whose children were long-term survivors with TD, they made the decision to continue the pregnancy. Charlie's mother met with her local neonatology team and together they created a birth plan that supported her goal of prolonging Charlie's life.

Delivery occurred at 36 weeks gestation through repeat cesarean section, and the infant required intubation and ventilator support immediately after birth. He spent five months in the neonatal intensive care unit where he received frequent speech, physical, and occupational therapy. Tracheostomy and gastric tube were placed at two weeks of age. He was treated for subclinical seizures and had challenges with hypoventilation and apnea, all of which improved with time. He was discharged to a rehabilitation facility for one month before going home.

He presented to our skeletal dysplasia program for multidisciplinary evaluation at 2.5 years of age. At that time, he had been generally healthy with one hospital admission for treatment of pneumonia since birth. He was able to roll from his back to his stomach and also used a power wheelchair for mobility. He was able to feed primarily by mouth with assistance, utilizing the gastric tube infrequently. Polysomnography obtained around this time demonstrated periodic breathing and central apnea with oxygen desaturations, and his neurological examination was notable for hypotonia, weakness, hyperreflexia, and crossed adductor reflexes, raising the concern for critical foramen magnum stenosis. Magnetic resonance imaging of the cervical spine and craniocervical junction identified a narrowed foramen magnum and diffuse narrowing of the cervical canal with signal changes within the spinal cord, and he subsequently underwent foramen magnum decompression the following month. After surgery, his developmental skills advanced significantly and his central apneas resolved.

At four years, his gastric tube had been removed and his ventilator settings were being slowly weaned over time. Acanthosis nigricans, a known skin finding in children with changes in the _FGFR3_ gene unrelated to glucose intolerance, was first observed in Charlie at approximately two years of age and had begun to spread within skin folds and areas of friction. He would go on to have surgical excision of these skin folds multiple times in an effort to reduce the complications that arose in these areas.

Repeat evaluation each year since has demonstrated consistent progression of developmental skills. At seven years of age, he was able to army crawl, bear weight in a jumper, and sit unsupported for one hour. With the assistance of a communication device, as well as sign language, he was able to use up to three-word phrases to communicate his needs and answer questions, including asking for specific foods and activities. Neuropsychiatric testing placed him at the one- to three-year-old level, with the caveat that standardized testing is made for children who experience the world much different than Charlie; therefore, it was noted to better describe him functioning within the sensorimotor developmental stage. Today, Charlie's mother described him as “a thriving 9-year-old boy” who feeds himself, drives his own power chair, throws a ball, colors, and paints. He has been weaned off the ventilator since eight years of age, and is now working toward decannulation, of which we believe he would be the first child with TD1 to accomplish.




*Discussion

Expected clinical course*

A crucial role that palliative care providers serve is to help families gain a better understanding of their child's prognosis and expected clinical course. This can be challenging when a fetus or a child carries a rare diagnosis and/or has surpassed prognostic expectations. A summary of the medical needs of published long-term survivors with TD can be found in Table 1.5–14 Although the number of published individuals living with TD1 are few, knowing the medical decisions and interventions these children required can be helpful when families turn to us for guidance.


General​ Gender​M​M​M​F​F​M​F​M​M​ Age at the time of publication​9 years​8 years​4.75 years​4 years; 28 years​23 years​6 years​169 days​212 days​9.5 years​ Current age​Unknown​Unknown​Deceased at 5.2 years​Unknown​Unknown​Deceased at 6 years​Deceased at 169 days​Deceased at 212 day​9.5 years​ Mutation in FGFR3​R248C​G370C​Unknown​R248C​R248C​S249C​Unknown​Unknown​R248C​ Thoracic circumference​NR​26.8 cm at birth; 35.8 cm at 8 years​23.5 cm at birth; 39 cm at age 3 years 9 months; 42 cm at 4.75 years​24 cm at birth; 41.5 cm at 3 years 9 months​NR​NR​NR​NR​40.8 cm at 4 years 1 month​ Head circumference​39.5 cm at birth (+1 SDa); −1.7 SDa at 8.7 years​37.0 cm at birth; 46.1 cm at 8 years​33.5 cm at birth; 47.5 cm at 4.75 years​35 cm at birth​NR​35 cm at birth​38.5 cm at birth​NR​60.8 cm at 8.5 years​ Linear growth​−6 to −6.5 SDa​Length did not increase beyond 49.0 cm after age 5​Absent linear growth after ∼10 months​Absent linear growth after ∼10 months​NR​Almost no linear growth​NR​NR​71.4 cm at 8.5 years​Neurological​ CNS abnormalities​Stable mild ventriculomegaly since 9 months; high cervical myelopathy; hyperreflexia, sustained ankle clonus and upgoing Babinski sign​Mild brain atrophy at age 7​Abnormal gray/white matter differentiation; communicating hydrocephalus; VP shunt placed​Progressive hydrocephalus; VP shunt placed​Moderate ventriculomegaly​Mild nonprogressive ventricular dilation​Progressive hydrocephalus; absent reflexes​Mild cerebral atrophy​Moderate ventriculomegaly; hypotonia, crossed adductor reflexes, no clonus​ Craniocervical junction abnormalities​Narrow transverse diameter of foramen magnum and marked upper cervical stenosis​NR​Auditory evoked potentials concerning for brain stem compression at foramen magnum​Progressive stenosis resulting in quadriplegia; MRI at 18 yo demonstrated no CSF flow through the FM​NR​NR​NR​NR​Stenosis of the foramen magnum with cervical cord compression​ Decompression surgery​No evidence of cervical cord compression​NR​Yes, no apparent benefit​Yes, in infancy with transient improvement in ventilator need; no further decompression attempted​NR​No​No​No​Yes, postoperative improvement in development and central apneic events​ Seizures​Yes, since 7 months of age, controlled with AEDs​NR​Yes, generalized seizure at 3 months​Febrile seizure in infancy, seizure disorder at age 15 controlled with AED​NR​NR​NR​Frequent apneic attacks with cyanosis treated with AEDs​Yes, subclinical seizures in neonatal period​ Hearing​Mild to moderate hearing loss, secondary to chronic otitis media; bilateral hearing aid use​NR​Dysfunctional retrocochlear pathway of left acoustic nerve​Right cholesteatoma; significantly impaired hearing; ability to recognize voices and react to sounds​NR​Severe sensorineural hearing loss​NR​NR​Chronic otitis media; bilateral cholesteatoma necessitating multiple surgeries; moderate hearing loss​Respiratory​ Tracheostomy​Yes​No, per family request​Yes​Yes​NR​NR​No​No​Yes​ Ventilator dependence​Yes, able to tolerate brief 10- to 12-minute windows with supplemental oxygen​Long-term intubation and mechanical ventilated since birth​Yes​Yes beginning at 4 months; from 8 to 10 years tolerated up to 8-hour window most days; tolerated 30-minute intervals until age 15, when she became fully dependent​Yes​Yes​No, oxygen supplementation​Oxygen support in infancy; periods of apnea noted; ventilator use during illness​Yes previously; however, no longer dependent (since age ​Development​ Motor skills​Approximately 2 to 12 months at chronological age of 4.8 years (rolls, scoots, sits unsupported, and pulls to stand with assistance); uses manual wheelchair for mobility​NR​“Profound” developmental delay​Previously able to roll and move around on her abdomen; ∼8- to 18-month level during teen years​NR​Development reported as similar to that described by Baker et al.​NR​NR​Sensorimotor developmental stage (army crawls, sits unsupported for 1 hour, and throws a ball); uses power wheelchair for mobility​ Cognitive and language skills​Approximately 18 months at chronological age of 8 years; vocalizations but no distinct words at age 9​Ability to make emotional expressions; language perception estimated at 10 to 12 months at chronological age of 8 years​Approximately 2 weeks at chronological age of 4.75 years; responded to visual cues only​Some vocalizations; ability to express likes/dislikes; use of limited sign language (hello, goodbye, and yes); ∼8- to 18-month level during teen years​NR​Development reported as similar to that described by Baker et al.​Cognitive development appeared to be consistent with chronological age​Cognitive development reported as normal until 4 months “and then was retarded”​Currently uses three-word phrases with an assistive communication device and sign language​ Feeding/nutrition​G-tube placed at 1.6 years; self-feeding at time of publication; g-tube use for medication and during periods of illness​“Fed a liquid mixture, augmented with trace elements”​NR​Some ability to self-feed; purees and thickened fluids​NR​Fed formula by mouth​NR​NR​G-tube placed at 2 weeks and removed at age 4; currently able to self-feed​Dermatological​ Acanthosis nigricans​Onset estimated to be at age 2​Onset at age 2​NR​Onset in teen years​Onset at age 13​Onset in “later life” of patient​NR​NR​Onset at age 2; underwent stages of surgical removal​
Compared with Achondroplasia standards.
AED, antiepileptic drug; CNS, central nervous system; CSF, cerebral spinal fluid; FM, foramen magnum; MRI, magnetic resonance imaging; NR, not reported; SD, standard deviation; VP, ventriculoperitoneal.

Respiratory​Infants with TD face challenges with ventilation. We hypothesize that this is due to a combination of upper airway obstruction, tracheomalacia, abnormal pulmonary anatomy, and pulmonary hypoplasia due to small ribs and a narrow chest.16 Although we suspect that infants with TD who are unable to be ventilated despite all interventions are in the majority, we note that there is a subset of patients who have the potential to survive when offered respiratory support.

As in Charlie's case, all published individuals with TD who have survived beyond one year of life have required long-term mechanical ventilation (Table 1). Most patients required tracheostomy, although one described patient utilized long-term endotracheal intubation.6,7 Several individuals were able to experience brief ventilator-free windows throughout the day; however, there are no published reports before this one of individuals completely weaned off of invasive respiratory support. It is worth noting that one child has been reported to have tolerated periods of time off ventilation, but later developed neurological sequelae, leading to complete ventilator dependence by the end of her second decade.9

Neurological​As seen in achondroplasia, the anterior-posterior diameter of the foramen magnum can be significantly narrowed in TD. This may present with neurological changes, developmental delays, and/or central apnea. Foramen magnum decompression can provide relief of pressure on the spine for those with critical stenosis. We anecdotally witnessed significant improvements in all three of these domains for our patient after decompression surgery. However, as noted earlier, an individual has been described for whom there was progression of cervical spinal stenosis in the second decade of life despite decompression as a child, leading to quadriplegia as a teenager and regression to need of complete ventilator support.9

On brain imaging, a majority of children in the literature had ventriculomegaly and/or temporal lobe dysplasia or dysgenesis; however, only two children had a ventriculoperitoneal shunt placed (Table 1).4,8,9,17–22 Seizures were common, typically temporal lobe epilepsy, but seemed to be manageable with antiepileptic medications.5,9

Developmental delays are expected. The individual described in this study demonstrated slow and steady developmental progress over time, with intensive therapies and augmentative communication devices. Early intervention should be involved; however, physical therapy should avoid any manipulations of the neck or back so as to not exacerbate injury due to the condition-associated foramen magnum stenosis and thoracolumbar kyphosis. Expectations should not be that a child with TD will be conversant and ambulatory without assistive devices, but that there is potential for developmental advancement.9

Dermatological​Acanthosis nigricans is a consistent feature that appears to develop in individuals with TD. This is not a surprising finding as acanthosis nigricans is observed in several other _FGFR3_-related disorders.23–25 Using a lubricant in locations of friction can sometimes slow the progression and prevent skin breakdown. Alternatively, surgical excision can be beneficial for some children with widespread acanthosis if it is causing significant discomfort or risk of infection.

Growth​Growth velocity for children with TD is not known; however, the child in our case showed steady length, chest, and head circumference growth over time. We suggest growth points for a child with TD be best plotted on achondroplasia growth charts, with expectations that the head circumference would plot above the mean, and the height would plot more than two standard deviations below the mean. To this end, infants with TD inevitably have different weight goals, and we suggest a goal of 5 to 10 g/day in the first year of life. Weight gain above this amount can cause reflux, vomiting, and abdominal competition leading to increased respiratory needs.

Potential for future treatment​C-type natriuretic peptide (CNP) is a potent positive regulator of endochondral bone growth. Studies have shown that CNP plasma levels are altered in _FGFR3_-opathies.26 Currently, clinical trials are underway testing the use of CNP analogues in children with achondroplasia. These studies are in progress, but early results show a modest increase in height.27 Although linear growth is one outcome being measured, the hope is that this treatment will decrease medical complications caused by skeletal changes in achondroplasia. There are also several other potential therapeutic agents for achondroplasia that are early in their development. We would be remiss if we did not mention the possibility of these medications being helpful to children with TD in the future as well. This is important to note as it further evidences the evolving clinical landscape for children with TD and informs the way in which palliative care physicians will need to counsel families about future potential and prognosis.

The role of the palliative care team in an evolving landscape​The story of children such as Charlie surviving with a “lethal” disease is not unfamiliar in pediatric palliative care (PPC). Trisomy 13 and 18 (T13/1, once considered mostly fatal, are now well established as syndromes with wide phenotypic variation, and children are known to survive for decades both with and without surgical intervention.28–30 TD in some ways is today where T13/18 were in the 1980s—with single case reports of long-term survivors, such as Charlie, and parents fighting for medical providers to consider alternatives.31

Although we currently lack longitudinal data in TD, we can extrapolate that with surgical intervention (tracheostomy, gastric tube placement, foramen magnum decompression, and/or ventriculoperitoneal (VP) shunt when clinically indicated), survival curves are likely to differ from what we would expect with a “uniformly fatal” diagnosis. Quality of life (QOL), of course, is important to follow, along with survival. If Charlie is any indication, his parents perceive his QOL to be excellent and state they would do nothing differently if they were faced with the same medical decisions for Charlie all over again.

As with the paradigm shift that has occurred in the care of infants with T13/18, PPC teams have played and continue to play a pivotal role in advocating for goal-concordant clinical care that is based on best available evidence for the disease in question. With rare diseases such as TD, single case reports of survivors such as Charlie are important evidence that a condition may be life-limiting, but not necessarily “uniformly lethal.” We, therefore, recommend practitioners be wary of the label “lethal” and suggest counseling families on the variety of clinical outcomes documented in the literature.





























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## Crimewatcher 44 (May 16, 2021)

GenociderSyo said:


> Mütter Museum FOP Skeleton -Harry Raymond Eastlack


The Mutter Museum also has the skeleton of Carol Orzel, another FOP sufferer. She is displayed next to Harry.






						Mütter Museum Reveals New Exhibit: Philadelphia Woman's Skeleton With Rare Bone Disease
					

Carol Orzel’s final wish: to donate her body to the Mütter Museum to educate the public about FOP and help researchers find a cure.




					muttermuseum.org


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## Slonki Wola (May 16, 2021)

Creutzfeldt-Jakob Disease


​
Creutzfeldt-Jakob Disease or CJD is caused by misfolded prions (neuron proteins) primarily in the Central Nervous System (CNS) but also in the blood and motor neurons in skeletal and cardiac muscle tissue. There are numerous prion diseases in other mammals such as Scrappie in sheep, Mad Cow disease in cows, and Chronic Wasting Disease in cervids. Prion diseases are also referred to in the medical community as Transmissable Spongiform Encephalopathies (TSE's). Misfolded prions are also resistant to heat, and need to be denatured through a precise chemical process.

There are numerous ways of contracting CJD, such as ingesting misfolded prions (vCJD), random misfolding (sCJD), or through a genetic predisposition. The odds of being diagnosed with CJD is 1/1,000,000, and the average age of onset is 60. There is currently no cure nor effective treatment and the prognosis is certain death within six months to two years of developing symptoms.

With that said, as a hypochondriac, this shit fucking scares me. I hit a deer one year ago, and although the research so far suggests that CWD is not transmissable to humans, I still am scared that I came into contact with infectious tissue on the front bumper of my car. I have zero doubt that if I start showing symptoms of neurological decline that CWD would be the culprit and I would kill myself.

More info on CJD/prion diseases:









						Creutzfeldt–Jakob disease - Wikipedia
					






					en.m.wikipedia.org
				












						Creutzfeldt-Jakob disease - Symptoms and causes
					






					www.mayoclinic.org
				









						Creutzfeldt-Jakob Disease, Classic (CJD) | Prion Diseases | CDC
					






					www.cdc.gov


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## Boson (May 16, 2021)

Super happy this thread exists. This topic is one that greatly interests me so if I find a fascinating disease I’ll certainly contribute. This is the main reason why I follow the tard baby thread. So far the worst defect that’s made me squirm would be the cyclops baby. Ugh.


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## NerdShamer (May 16, 2021)

Boson said:


> Super happy this thread exists. This topic is one that greatly interests me so if I find a fascinating disease I’ll certainly contribute. This is the main reason why I follow the tard baby thread. So far the worst defect that’s made me squirm would be the cyclops baby. Ugh.


At least those are usually born dead on arrival.


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## tacosauces (May 16, 2021)

GenociderSyo said:


> On this forum there are many things we run into in a medical sense that leads to some pretty long tangents to explain them. I brought up my interested in all things odd and curious in the medical sense in Historic Images and people seemed to think this thread would be interesting.
> 
> I will try to post a new disorder or something weekly, focusing on the rare and more unknown ones. I will also try to focus on ones that include images or videos so that it is more then just boring text.
> 
> ...


Just found this thread. Awesome stuff, thank you!


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## Smaug's Smokey Hole (May 16, 2021)

The Real Me said:


> Exploding Head Syndrome is a condition in which before or right after falling asleep, the sufferer hears a loud auditory hallucination akin to an explosion or gunshot. Some people also experience a bright flash of light, though this is less common. Due to its nature, people with the condition can sometimes grow fearful of sleep and the condition itself is thought to be sometimes linked to epilepsy or PTSD though a true cause is unknown.


I have that, for real, and it is extremely annoying and unsettling. First heard the term maybe 15 years ago, never thought about what it could be before that.

Right before crossing the barrier between falling asleep and being asleep it's like someone tosses in a large firecracker or fires a gun in the room, the sound is very clear and very loud so there's never any doubt that it's in the same room. When you're drifting off you're in a very vulnerable state mentally so it's not possible to brace yourself, this means you can never get used to it even though you know perfectly well that it's nothing. It also pumps out some adrenalin because it's essentially a jump scare. Adrenalin and falling asleep doesn't go well together. It can happen again and again in the same night until it just doesn't happen again for seemingly no reason.

It fucking sucks.

"Norrbottnian Congenital insensitivity to pain" is a chromosome mutation that mostly happens in the Swedish north that makes people unable to feel pain. Just pain and things related to it, everything else is seemingly fine, meaning they can jerk off like monkeys but when the friction ignites the wang they won't feel that part.


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## GenociderSyo (May 16, 2021)

Smaug's Smokey Hole said:


> "Norrbottnian Congenital insensitivity to pain" is a chromosome mutation that mostly happens in the Swedish north that makes people unable to feel pain. Just pain and things related to it, everything else is seemingly fine, meaning they can jerk off like monkeys but when the friction ignites the wang they won't feel that part.


I've seen a documentary about that the girl in it coudnt feel extremes of temperatures either. Everything was some vague term of hot or cold. I remember they showing the girl had seriously burnt herself and also scratched her eyes until she was blind and bit off half of her tongue. Might do that cluster of disorders next.


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## Exuvia (May 20, 2021)

*Cri-du-chat syndrome* is a chromosomal disorder which typically presents with intellectual disability, unusual facial features and heart defects. On their own, these signs are not out of the ordinary for a chromosomal condition. What is, however, is the distinct cry which the diagnosed children are known for and which gives the syndrome its name (French for "_cat's cry_").

Here's a good recording of what it sounds like:









Spoiler: Powerleveling



I've encountered this once so far; I remember being in the hallway and thinking "_who the hell brings a cat with them to the emergency room_" and then feeling like a complete asshole when we entered the room and I learned that the sound was coming from a crying disabled child...


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## GenociderSyo (May 22, 2021)

*Hereditary Sensory and Autonomic Neuropathy Type IV 
Congenital Insensitivity to Pain with Anhidrosis (CIPA)
(700 cases or so, mainly in Japan)*​The incidence of the disorder is due to something known as the founder effect which is why majority of cases are found in Japan among Japanese and Israeli-Bedouin populations. A founder effect is when a small isolated population of settlers (founders) expands over several generations leading to a high prevalence of a particular genetic trait. Regions with a high rate of consanguinity also show a higher prevalence. 

This autosomal-recessive genetic disorder causes a person to have an inability to feel pain as well as an inability to sweat. They also are unable to distinguish temperature and cannot distinguish between hot and cold. This is due to issues with the sensory nerves and why it is deemed a neuropathy. Due to the inability to sweat individuals may have sudden fevers and high body temperature. They also may unintentionally mutilate themselves, damage their joints, or fracture. 

Helpful little image when dealing with disorders to figure out how likely genetic disorders will pass onto children is the punett square.






It can be seen that there is a 25% chance that two parents who carry the gene will have a child with the disorder.  There is a 100% chance if two people with the disorder have a child there child will have this.  If someone with the disorder and someone who is a carrier have a child there is a 50% chance the child will have it. This is a very simplified image of this and its kinda a fun little puzzle game to figure things out via it.

With this disorder, infants cannot or have a markedly decreased ability to sweat which leads to frequent hyperthermia  episodes until the anhidrosis is diagnsosed. These episodes can and do lead to febrile seizures. Some have skin issues where it becomes calloused easily. Hyptonia is common at birth. Some may have episodes of postural hypotension, where their blood pressure drops when they stand or they may have elevated heart rate when changing posture.

Affected infants fail to feel pain in response to stimuli that normally should produce pain such as failing to respond to routine injections that are part of pediatric immunizations. Pain is essential to protect people from injury and to alert the body of injury. Because of the inability to feel pain, affected infants and children may suffer repeated injuries and may demonstrate behaviors that cause injury to themselves (self-mutilation) including biting one’s tongue, lips and the lining of the inside of the mouth (buccal mucosa). Affected infants often develop ulcers on their tongues from repeatedly biting their tongues. When the primary teeth first erupt, affected children often bite their fingertips or toes; in severe cases, they can chew or bite off the tips of their fingers or toes and lips.

Individuals may be unaware of injuries and this can lead to chronic skin erosions, ulcers (open sores), or blisters that are slow to heal. Affected individuals can develop infection of the surrounding bone (osteomyelitis), loss of bone and tissue in the fingers and toes (acroosteolysis), and spontaneous, repeated fractures. Repeated trauma to joints results in progressive inflammation, damage, and deformity of the affected joints (Charcot joint or neuropathic arthropathy). The large, weight-bearing joints are especially prone to this complication.

Eye abnormalities may develop, specifically neurotrophic keratitis, a condition characterized by damage to the corneas of the eyes. The cornea is the transparent membrane that covers the front of the eyes. Affected individuals can develop lesions (ulcerations) on the cornea; these lesions can cause corneal scarring. Infection can also occur. There have been cases where children have literally scratched almost through their corneas.

Some children with HSAN IV have developmental delays and learning disabilities are common. There may be intellectual disability in some individuals but case and prevalence is unknown. Behavioral problems including irritability, hyperactivity, emotional lability (inability to control one's emotions) and episodes of anger or rage.

Treatment is directed toward the specific symptoms that are apparent in each individual. Genetic counseling is recommended for affected individuals and their families. Affected individuals may be treated with acetaminophen or ibuprofen when fevers are present. Direct cooling in a bath or with a blanket designed to lower body temperature (cooling blanket) may also be used. Behavioral issues tend to improve with age. These issues have been treated with behavior modification techniques along with anti-psychotic medications or attention deficit hyperactivity disorder medications.

Various orthopedic measures may be necessary to treat abnormalities affecting the bones and joints including surgery or the use of braces or orthopedic devices. Various dental procedures may be used to treat individuals. Smoothing over or grinding down the sharp edges of teeth, prophylactic use of crowns, the use of a night-guard and other orthodontic treatments may be considered. Extracting teeth to prevent self-mutilation has also been done.

Treatment of neurotrophic keratitis can include a procedure in which the eyelids are sewn together to narrow the opening (tarsorrhaphy), plastic surgery to repair the cornea (keratoplasty), replacement of part or all of an affected cornea with healthy corneal tissue from a donor (scleral corneal graft), and special contact lenses that protect the cornea (scleral bandage lens). These contact lenses create a space between the front of the cornea and the back of the lenses that fills with a sterile saline solution.

Regular, daily inspection for unrecognized or unrealized injury is important as well.

The most known documentary about this seems only to be avaiable via purchase from the producer on vimeo demand:
A Life Without Pain


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## GenociderSyo (Jun 4, 2021)

*Bosma Arhinia Microphthalmia Syndrome - BAM Syndrome
(Less then 100 cases have ever been reported)*​This disorder has 3 main featres:

Complete absence of the nose​
Eye defects​
Absent sexual maturation​
Examples of the eye problems an include having no tear ducts to Microphthalmia (very small eyes with blindness). Boys may be born with micropenis and/or undescended testes. Girls will not develop breasts or have menstrual periods. There is no effect on intelligence nor decrease in life expectancy, This disorder occurs spontaneously in the egg or sperm cell and is not inherited from the parents.

Children with this disorder have a very small (hypoplastic) nose or usually no nose at all. They also lack the internal parts of the olfactory system so cannot smell, those with hypoplastic nose may in rare cases be able to detect very strong, irritating odors.

An issue occurs when babies are born without a nose since babies do not instinctively use their mouths to breath or use their noses to breath when eating. Some will need temporary tracheotomies and oxygen to breath, it is also possible that there will be blockage of lower airways requiring surgery. They may also need extra support with feeding due to this. Children with this disorder may have abnormally small or missing eyes, issues with the iris, issues with the pupils, cleft eyeball, cataracts and all have no tear ducts. They may also have issues with the retina and most will have progressive vision loss if born with sight. They may have other facial differences such as cleft lip or cleft palate, abnormal external ears (too large or too small), and crowded or missing teeth. The reproduction system anomalies are caused by the hypothalamus which does not make the hormone GnRH (gonadotropin-releasing hormone) with this disorder.


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## The Cunting Death (Jun 5, 2021)

I had a friend who got diagnosed with this back when she was in middle school and it fucked her over pretty badly

All I remember though, is that

She had to be in her room at almost all times
Had something similar to short fatigue syndrome in that she had very little energy in her and because of this she couldn't go out often
there's no known cure for it
anyone know what im talking about, because I can't remember exactly what disease this is


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## Meiwaku (Jun 15, 2021)

Frank D'arbo said:


> I had a friend who got diagnosed with this back when she was in middle school and it fucked her over pretty badly
> 
> All I remember though, is that
> 
> ...


Narcolepsy (this is related to sleep tho)? Chronic fatigue syndrome? Fibromyalgia? (It has energy and sleep elements)


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## The Cunting Death (Jun 15, 2021)

Meiwaku said:


> Narcolepsy (this is related to sleep tho)? Chronic fatigue syndrome? Fibromyalgia? (It has energy and sleep elements)


70% sure its Fibromyalgia, 30% its Chronic Fatigue, I'm looking into it right now

Thanks so much


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## RW 1995 (Jun 15, 2021)

GenociderSyo said:


> View attachment 2232309​


this baby is so cute oh my god


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## GenociderSyo (Jun 18, 2021)

*Marshall Smith Syndrome
(Only 50 Known Cases Worldwide)*​The main feature of this disorder is faster than normal bone growth. This leads to low muscle tone, muscle weakness, and sometimes difficulties in gaining weight. They also tend to have abdominal hernias (umbilical hernias), intellectual developmental delays, psychomotor delays (slowing down of thought and voluntary movements), and/or breathing difficulties. The abnormal nexk extension due to the bone growth can lead to high-pitched noisy breath and the tongue blocking the airway. The windpipe itself tends to have abnormal development of the structure that stops foods and liquids from entering the windpipe.

This disorder tends to lead to facial differences such as a long head with a prominent forehead, prominent eyes, an upturned nose with a low nasal bridge, and excessive hair growth. The patient’s eye whites may appear bluish, and the lower jawbone may be smaller than average. Their fingertips may appear narrow while the rest of the finger may appear broad.

There may also be a shorter breastbone, as well as a deep crease between the big toe and the second toe. Some brain abnormalities may occur, including atrophy (loss of brain cells), macrogyria (larger than normal grooves in the brain), or a missing corpus callosum. They have poor immune systems, and on rare occasions, babies with this syndrome could be born with part of their intestines outside of their bodies via the belly button.

This disorder ususally lead to death in early infancy or toddlerhood due to respiratory issues, but now more and more are living into childhood. has long been considered a childhood condition because affected individuals did not typically survive past childhood.






























Resources:
Marshall Smith Research Foundation
Phoenix's Life with Marshall Smith Syndrome Youtube Channel
Patient Guide Attached


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## Pissmaster (Jun 18, 2021)

GenociderSyo said:


> Bosma Arhinia Microphthalmia Syndrome - BAM Syndrome
> (Less then 100 cases have ever been reported)​This disorder has 3 main featres:
> 
> Complete absence of the nose​
> ...


Oh hey cool it's Final Fantasy Tactics characters in real life


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## The Cunting Death (Jun 18, 2021)

Meiwaku said:


> Narcolepsy (this is related to sleep tho)? Chronic fatigue syndrome? Fibromyalgia? (It has energy and sleep elements)





Frank D'arbo said:


> 70% sure its Fibromyalgia, 30% its Chronic Fatigue, I'm looking into it right now
> 
> Thanks so much


If there's any similar related illnesses it would be cool if anyone could mention it because I'm curious now


Also neat thread OP


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## Exuvia (Jun 18, 2021)

Frank D'arbo said:


> If there's any similar related illnesses it would be cool if anyone could mention it because I'm curious now
> 
> 
> Also neat thread OP


It's become a meme due to House, MD, but Lupus might also be a candidate, since you mentioned your friend had to stay inside (Lupus is aggravated by sunlight exposure).


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## GenociderSyo (Jun 18, 2021)

Frank D'arbo said:


> If there's any similar related illnesses it would be cool if anyone could mention it because I'm curious now
> 
> 
> Also neat thread OP


Theres a syndrome called "Kleine-Levin syndrome*."*


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## The Cunting Death (Jun 18, 2021)

GenociderSyo said:


> Theres a syndrome called "Kleine-Levin syndrome*."*


neat as well

and something I just remembered, said disease caused her to have a weak immune system


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## GenociderSyo (Jun 18, 2021)

Frank D'arbo said:


> neat as well
> 
> and something I just remembered, said disease caused her to have a weak immune system


Sounds like Lupus as others have said the drugs to treat it tend ot weaken the immune system.
This is a standard symptom of Lupus:


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## The Cunting Death (Jun 18, 2021)

GenociderSyo said:


> Sounds like Lupus as others have said the drugs to treat it tend ot weaken the immune system.
> This is a standard symptom of Lupus:
> View attachment 2274756


I know it wasnt lupus because she told me it wasnt and I would have made a House joke about it.

Either way thanks for the info


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## Carcinogenesis (Jun 19, 2021)

Frank D'arbo said:


> If there's any similar related illnesses it would be cool if anyone could mention it because I'm curious now
> 
> 
> Also neat thread OP


Mitochondrial myopathies are diseases where the mitochondria are impaired, leading to issues with muscles. They vary in severity, fatigue and exercise intolerance are common symptoms but other symptoms depend on the pathophysiology of the disease.


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## The Cunting Death (Jun 21, 2021)

There's Alien Hand Syndrome, also known as Dr. Strangelove syndrome (named after the titular character from the eponymous film who had a hand that could not stop Sieg Heiling) where your hand does stuff on its own


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## GenociderSyo (Jun 21, 2021)

Frank D'arbo said:


> There's Alien Hand Syndrome, also known as Dr. Strangelove syndrome (named after the titular character from the eponymous film who had a hand that could not stop Sieg Heiling) where your hand does stuff on its own


It also can be a predescor warning of a stroke:



Spoiler: Articel



Alien hand syndrome is a phenomenon in which one hand is not under control of the mind. The person loses control of the hand, and it acts as if it has a mind of its own. The etiology includes neurosurgery, tumor, aneurysms, and rarely stroke (1). This case is presented to create awareness of this interesting clinical scenario, which can be terrifying to the patients and confusing to the physicians who are not aware of it.

CASE DESCRIPTION​A 77-year-old woman with chronic atrial fibrillation had her anticoagulation stopped temporarily for spine surgery. No bridging with low-molecular-weight heparin was done. Two days later, while watching television, she noted her left hand flinging across her visual field. Her left hand stroked her face and hair without her will. She got terrified. Her attempts to control the left hand with the right hand were unsuccessful. She did not have any control of the left hand for almost 30 minutes as it continued to make purposeful movements. She later noted that her left upper limb was numb and slightly weak when she regained control. Her husband helped her to the car to take her to the hospital, and he noted that she was dragging her left leg while walking.
In the hospital, a computed tomography (CT) scan and magnetic resonance imaging (MRI) of the brain showed acute infarcts in both parietal lobes. Transthoracic and transesophageal echocardiograms did not show any evidence of thrombus. She gradually gained normal control of the left side over the next 6 hours. A diagnosis of stroke possibly due to cardioembolism was made. Her anticoagulation was resumed, and she was discharged home with advice to maintain anticoagulation at all times.

DISCUSSION​Alien hand syndrome, or Dr. Strangelove syndrome, is an interesting situation in which a person loses control of his or her hand, which starts to act independently. It describes involuntary complex goal-directed activity of one limb. Recent usage of the term “alien hand” is more liberal and requires having observable involuntary motor activity along with the feeling that the limb is foreign or that it has a will of its own (2). The syndrome has been reported after surgery on the corpus callosum and with brain tumors, aneurysms, degenerative diseases of the brain, and uncommonly stroke. Alien hand as a manifestation of cardioembolic stroke is extremely rare, with only a few cases reported in the literature.
Lesions implicated in causing alien hand syndrome include those in the corpus callosum and/or posterior parietal cortex, supplementary motor area, and the anterior cingulate cortex. Functional MRI has been used to study brain activity in patients with alien hand syndrome (3). In normal individuals, initiation of motor activity shows activation of multiple extensive neural networks. However, in patients with alien hand syndrome, only isolated activation of the contralateral primary motor cortex is observed (3). It has been proposed that lesions in the parietal cortex result in isolated activation of the contralateral primary motor area due to its release from the intentional planning systems. Damage to the parietal cortex can also cause lack of awareness of movements due to loss of proprioceptive feedback or left hemineglect (3). The combination of these factors results in initiation of spontaneous movements without the patient's knowledge or will.
Alien hand syndrome has been reported to be associated with several abnormal involuntary movements when different regions of the brain, like the corpus callosum, parietal region, or frontal region, are involved. It can be classified into at least four categories: 1) diagnostic dyspraxia/intermanual conflict (when one hand performs actions contrary to the other hand); 2) alien hand sign (a subjective feeling that the hand is not one's own); 3) syndrome of anarchic hand (when the affected hand performs goal-directed activity not under the will of the person); and 4) supernumerary hand (a feeling of having an extra limb) (4). Another type of alien hand is the levitating hand, where the affected limb tends to levitate without volitional action (4).
Alien hand might manifest as a self-groping behavior and self-oppositional behavior (5). Autocriticism has also been reported, with the person slapping the alien hand with the normal hand. The person loses control of the affected hand as if it is being controlled by an external force. The alien hand might grab onto things and the person might have to use the other limb to release the objects from it. At extremes, the alien hand has been reported to even suffocate the patient.
There is no established treatment for alien hand. It has been reported to last for several days to several years. Alien hand as a manifestation of cardioembolic transient ischemic attack has been reported only once based on our review (6). The extremely short duration of alien hand in this case report (30 minutes) is the shortest reported duration of this phenomenon recorded.

References
1. Park YW, Kim CH, Kim MO, Jeong HJ, Jung HY. Alien hand syndrome in stroke—case report and neurophysiologic study. Ann Rehabil Med. 2012;36(4):556–560. [PMC free article] [PubMed] [Google Scholar]
2. Doody RS, Jankovic J. The alien hand and related signs. J Neurol Neurosurg Psychiatry. 1992;55(9):806–810. [PMC free article] [PubMed] [Google Scholar]
3. Assal F, Schwartz S, Vuilleumier P. Moving with or without will: functional neural correlates of alien hand syndrome. Ann Neurol. 2007;62(3):301–306. [PubMed] [Google Scholar]
4. Aboitiz F, Carrasco X, Schröter C, Zaidel D, Zaidel E, Lavados M. The alien hand syndrome: classification of forms reported and discussion of a new condition. Neurol Sci. 2003;24(4):252–257. [PubMed] [Google Scholar]
5. Feinberg TE, Schindler RJ, Flanagan NG, Haber LD. Two alien hand syndromes. Neurology. 1992;42(1):19–24. [PubMed] [Google Scholar]
6. André C, Dominques RC. Transient alien hand syndrome: is this a seizure or a transient ischaemic attack? J Neurol Neurosurg Psychiatry. 1996;60(2):232–233. [PMC free article] [PubMed] [Google Scholar]



Included Reference links if people are insterested to read more its a really interesting phenomenon.


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## GenociderSyo (Jun 23, 2021)

This one's taken a bit and is quite long since I've had the experience working with a child with this disorder and wanted to give it a good deep dive.

*Osteogenesis Imperfecta
(20,000 to 50,000 individuals in the United States have some Type of OI)*​Osteogenesis Imperfecta (OI) is  characterized by extremely fragile bones that break or fracture easily (brittle bones), often without apparent cause. Infants of the worst types are usually born with broken limbs from the normal process of delivery as well as prenatal ones as well. Severeity is determined by type, but even that is variable within the type itself.  There are four main types of OI: Type I is the most common and the mildest form of the disorder, where as OI type II is the most severe. This disorder is autosomnal dominant meaning that if someone with this disorder has kids it is pretty much gauranteed their children will have this disorder.  

*Osteogenesis Imperfecta Type I*
This is the most common and usually the mildest form of OI.  In this type  multiple bone fractures usually occur during childhood and through puberty. This is usually seen when an affected child begins to walk and fractures during the newborn (neonatal) period are rare. The frequency of fractures usually declines after puberty. Repeated fractures may result in slight malformation of the bones of the arms and legs.

There is a distinctive bluish discoloration of the whites of the eyes in this type of OI. In rare cases there are abnormalities affecting the middle and/or inner ears contributing to, or resulting in, hearing impairment which occurs most often around the 30s, butin some cases as early as 20s and late as 70s. They also may have a triangular facial appearance and an abnormally large head (macrocephaly).  

About half of people with this will have mild short stature and about 20% will develop scoliosis or kyphosis. Additional symptoms associated with OI type I include loose joints, low muscle tone and thin skin that bruises easily. Some researchers believe that there may be a subtype of OI 1 with dental abnormalities.

*Osteogenesis Imperfecta Type 2*

This is the most severe type of osteogenesis imperfecta and affected infants often experience life-threatening complications at, or shortly after, birth. They have low birth weight, abnormally short arms and legs (limbs) and bluish discoloration of the whites of the eyes.They have extremely fragile bones and numerous fractures present at birth. The ribs and long bones of the legs of affected infants are often malformed.

Infants with OI type II often have underdeveloped lungs and an abnormally small upper chest leading to respiratory insufficiency which is life threatening. In some cases, they may experience congestive heart failure. They also have small, narrow nose; a small jaw  and an abnormally soft top of the skull with abnormally large soft spots. They may also have abnormally thin, fragile skin and low muscle tone. This type has been subdivided into three subgroups based on small differences in bone formation. These invidivuals are almost always wheelchair bound early on in life.

*Osteogenesis Imperfecta Type 3*

This type is characterized by extremely fragile bones, multiple fractures, and malformed bones. Multiple fractures are often present at birth. Fractures and malformation of various bones are progressive in some cases as affected infants and children age. This results in short stature, sideways and front-to-back curvature of the spine and malformation of the area where the bone in the back of the skull and the top of the spine meet. Some affected individuals may develop pulmonary insufficiency and respiratory problems and in severe cases individuals may require wheelchairs.

Some may have blue discoloration to the whites of the eyes, but in this type it fades during the first year of life. Affected infants may have a triangular facial appearance due to an abnormally prominent forehead and an abnormally small jaw. In some cases, hearing impairment and brittle, discolored teeth may also be present.

*Osteogenesis Imperfecta Type 4*

This type causes fragile bones that often fracture easily that are more common before puberty. They have mild to moderate bone malformation and are usually shorter than average and may develop scoliosis and kyphosis. They may have a triangular facial appearance and the whites of the eyes are normal or pale blue (which fades) during infancy. They may also experience hearing impairment and brittle, discolored teeth.



Spoiler: Breakdown of All Types



Type I (Dominant)

Most common and mildest type of OI.
Bones fracture easily. Most fractures occur before puberty.
Normal or near-normal stature.
Loose joints and muscle weakness.
Sclera (whites of the eyes) usually have a blue, purple, or gray tint.
Triangular face.
Tendency toward spinal curvature.
Bone deformity absent or minimal.
 Brittle teeth possible.
Hearing loss possible, often beginning in early 20s or 30s.
Collagen structure is normal, but the amount is less than normal.
Type II (Dominant)

Most severe form.
Frequently lethal at or shortly after birth, often due to respiratory problems.
Numerous fractures and severe bone deformity.
Small stature with underdeveloped lungs.
Tinted sclera.
Collagen improperly formed.
Type III (Dominant)

Bones fracture easily. Fractures often present at birth, and x-rays may reveal healed fractures that occurred before birth.
Short stature.
Sclera have a blue, purple, or gray tint.
Loose joints and poor muscle development in arms and legs.
Barrel-shaped rib cage.
Triangular face.
Spinal curvature.
Respiratory problems possible.
Bone deformity, often severe.
Brittle teeth possible.
Hearing loss possible.
Collagen improperly formed.
Type IV (Dominant)

Between Type I and Type III in severity.
Bones fracture easily. Most fractures occur before puberty.
Shorter than average stature.
Sclera are white or near-white (i.e. normal in color).
Mild to moderate bone deformity.
Tendency toward spinal curvature.
Barrel-shaped rib cage.
Triangular face.
Brittle teeth possible.
Hearing loss possible.
Collagen improperly formed.

Type V (Dominant)

Clinically similar to Type IV in appearance and symptoms of OI.
A dense band seen on x-rays adjacent to the growth plate of the long bones.
Unusually large calluses (hypertrophic calluses) at the sites of fractures or surgical procedures. (A callus is an area of new bone that is laid down at the fracture site as part of the healing process.)
Calcification of the membrane between the radius and ulna (the bones of the forearm). This leads to restriction of forearm rotation.
White sclera.
Normal teeth.
Bone has a “mesh-like” appearance when viewed under the microscope.
Dominant inheritance pattern

Type VI (Dominant)

Clinically similar to Type IV in appearance and symptoms of OI.
The alkaline phosphatase (an enzyme linked to bone formation) activity level is slightly elevated in OI Type VI. This can be determined by a blood test.
Bone has a distinctive “fish-scale” appearance when viewed under the microscope.
Diagnosed by bone biopsy.
Whether this form is inherited in a dominant or recessive manner is unknown, but researchers believe the mode of inheritance is most likely recessive.
Eight people with this type of OI have been identified.

Type VII (Recessive)

The first described cases resemble Type IV OI in many aspects of appearance and symptoms.
In other instances the appearance and symptoms are similar to Type II lethal OI, except infants had white sclera, a small head and a round face.
Short stature.
Short humerus (arm bone) and short femur (upper leg bone).
Coxa vera is common (the acutely angled femur head affects the hip socket).
Results from recessive inheritance of a mutation to the CRTAP (cartilage-associated protein) gene. Partial function of CRTAP leads to moderate symptoms while total absence of CRTAP was lethal in all 4 identified cases.

Type VIII (Recessive)

Resembles lethal Type II or Type III OI in appearance and symptoms except that infants have white sclera.
Severe growth deficiency.
Extreme skeletal under mineralization.
Caused by a deficiency of P3H1 (Prolyl 3-hydroxylase 1) due to a mutation to the LEPRE1 gene.




Treatment for all types involves preventing symptoms, maintaining individual mobility, and strengthening bone and muscle. This includes exercise and physical therapy programs to strengthen muscles, increase weight-bearing capacity, and reduce the tendency to fracture. Physical therapy in the water (hydrotherapy) has also been proven helpful since moving around in water lessens the chance of fracture. 

A procedure in which metal rods are surgically placed in the long bones to prevent fractures is often used to treat individuals with OI. Surgery may prove necessary for individuals with severe malformation of the bones of the spine or basilar impression.  Plastic braces are replacing plaster casts as protective devices because they permit greater freedom of movement and can be used in water. Inflatable suits can provide added protection, especially to very young children. 

From the OI Foundation:
"There is evidence that OI has affected people since ancient times. It has been recognized in an Egyptian mummy of an infant from about 1000 BC. The mummy is currently in the British Museum in London, England. A Viking leader who lived in the 9th century, Ivar Ragnarsson “Ivar the Boneless,” probably had OI. He is reported to have been a very wise leader and a very fierce warrior who had to be carried into battle on a shield because his legs were so soft. Case studies of people with fragile bones and hearing loss began appearing in medical literature in the 1600’s. The term “osteogenesis imperfecta” was used in medical literature beginning in the 1840’s. Early in the 20th century OI was identified as a condition people were born with rather than an illness that they acquired later. Today, people who have OI are involved in every walk of life."

The infamous banned Double Dare episode (From the Lost Media Wiki):
"There was at least one other episode of _Double Dare_ that was filmed, but never aired. The episode involved a child that had a condition called "brittle bone disease" that made his bones more fragile than the average contestant on the show. He lied about it on the application and made it onto the show.
During the filming of the episode, the predictable happened - the kid broke his arm, while doing one of the obstacles on the obstacle course. Marc said that the kid's bone went right through his skin, and Marc had to leave the set immediately, almost puking. The obstacle course was not redone, as the episode never aired on television."



Spoiler: Guidelines for Care






Spoiler: Pediatric



Care for children who have OI should be customized to meet the needs of each individual child. No two children with OI are exactly alike. The picture of OI varies greatly, not only between different types, but also within groups. Elements of a care plan will include:

Management of skeletal and non-skeletal issues
Rehabilitation to enhance function and encourage development of maximum bone mass
Nutrition counseling for health and weight control
Surgical/hospital care that reflects knowledge of OI and respect for bone and tissue fragility
Referrals to other specialists, including mental health professionals, as needed
Attention to normal childhood disease and immunizations
Age appropriate information about reproductive health and sexuality.

*Precautions to take when caring for a person with OI*

There are certain precautions that should be taken when working with someone with OI. These include:

Never pull or push on a limb, or bend it into an awkward position, not even to take an x-ray
Use caution when inserting IVs, taking blood pressure, or performing other medical procedures to avoid causing injury
Always dose medicines to the size, NOT the age of short statured adults
When a fracture is suspected, minimize handling of the affected limb.
Respect the opinions, advice, or instructions provided by parents, children, and adults with OI. Based on experience, they give good directions for the safest ways to lift, carry, or reposition. Having dealt with dozens of fractures and medical procedures, even children have a good sense of when a bone is broken before x-rays are taken.
Handle babies with extra care.
Lift a baby with OI by placing one hand under the buttocks and legs, and the other hand under the shoulders, neck, and head.
Do not lift the baby from under the armpits.
Do not lift by the ankles to change a diaper- rather, slide a hand under the buttocks.
Babies do not need to be kept on a pillow or soft surface. Encourage babies to explore independent movement.
Supporting infants in a variety of positions (e.g., side lying, stomach lying) develops muscles that will help with sitting and standing later on.


*Interdisciplinary Care*

Children benefit from coordinated interdisciplinary care from physicians familiar with OI. A number of medical centers across the United States and Canada have OI clinics and/or research programs, often as part of a genetics or bone dysplasia center. The OI foundation can assist in helping you find a clinic through our “clinic directory”.

In other communities, the parents and primary care physician work together to create a network of health care providers for the child with OI. Clear and timely communication between all health care providers is important.

*General Pediatric Care*

The general health needs of children with OI are the same as other children. Typical childhood illnesses can be expected, but ear infections may occur more frequently. Children with all types of OI have a predisposition to respiratory infections, and they may be more serious in children with Type III OI. Immunizations are not contra-indicated and are encouraged. Physicians with experience caring for children with OI suggest:

Titrate medication to a child’s weight, not age, even with older children and teens
Monitor the use of non-steroidal anti-inflammatory (NSAIDS) drugs- some have been linked to retarded bone healing after fracture
Minimize the use of drugs that contain steroids because of negative effects on bone metabolism
It is beneficial when PCP office personnel are trained in OI-specific safe handling techniques.
*Monitoring*

When working with children with OI, the following should be monitored:

Routine screenings for vision, hearing, and dental care
Spine checks for scoliosis and kyphosis beginning at age 2
Bone density testing is recommended to help monitor changes over time. A baseline test when a new course of treatment is started is informative along with a test approximately 6-12 months after a change in treatment
Echocardiogram as a baseline heart valve screening during later teen years or early young adult
Consult with an orthodontist no later than age 7 to assess jaw development, and the presence of malocclusions or cross-bite
Perform a baseline quantitative Pulmonary Function Test (PFT) on all children with OI at age 5 or when the child can cooperate, and again at maturity (age 20-25 years). If PFT is normal, repeat every 2 years.

*Diet and Nutrition*

Children with OI need a balanced diet containing enough water, fiber, calcium, and vitamin D calibrated to their age and size. Here are some important things to keep in mind about diet and nutrition and OI:

Nutrition Counseling for parents and children may be beneficial
Slow weight gain is seen in infants- this may not be failure to thrive
Swallowing difficulties, which are reported in some toddlers, may require referral to an occupational or speech therapist, or a nutritionist who treats feeding disorders
Small appetite is seen in children of all ages- inactivity, pain, medications, and depression are potential causes
Constipation is seen in children of all ages and with all types of OI (and can even be recurrent). Short stature, inactivity, pelvic deformity, and difficulty with hydration are contributing factors
Weight control is important- obesity places a strain on the fragile skeleton and can lead to loss of mobility
Hormonal changes related to puberty can contribute to unhealthy weight gain, especially in girls who have OI
*Mental Health*

Living with OI can present emotional as well as physical challenges for the child, parents, and siblings. Health care providers are encouraged to note signs of depression, substance abuse, and fearfulness, and to make referrals to mental health professionals.

Children with OI may experience low self-esteem and anxiety. Children with the milder forms of OI may struggle to cope with having a hidden disorder that can be misunderstood by their peers. Older children may become discouraged by the repeated need to re-learn mobility skills, receive painful therapies, and miss out on activities with their peers due to fractures and reduce mobility. Even relationships between siblings can even be strained.

*Development*

OI does not affect a child’s ability to think and learn, but children with OI often demonstrate delays in meeting developmental milestones. These delays can be the result of repeated immobilizations after fractures, misalignment of the long bones and joints, and the general hypotonia and ligamentous laxity common in OI. Interventions can include physical and occupational therapy, braces, use of adaptive equipment and mobility aides. Small-muscle development, especially in hands and fingers, is likewise affected. To the best of our current knowledge, the incidence of autism, hyperactivity, and childhood cancers is believed to be similar to children without OI.

*Growth*

Mild to significant short stature and a slow growth rate occurs in OI. Hip and back pain due to poor alignment and leg length discrepancies occur in all types of OI and should be evaluated by an orthopedist and/or a gait specialist. Height and weight charts for the child with OI are available.





Spoiler: Adults



The Adult health initiative is a multi-year effort sponsored by the OI Foundation. It is a series of research projects, publications, and outreach efforts to OI Adults and their Physicians. The long term goals for the Initiative are to: increase knowledge about the health status, needs, and health priorities of adults with OI; Encourage, and when necessary, self-fund studies specifically designed to improve the health of adults who have OI; and equip adults who have OI and their health care providers with information they need to anticipate problems and when possible, prevent or minimize symptoms that are aggravated by time and age.

The general health needs of adults with OI are the same as in unaffected adults. OI may complicate treatment of various illnesses or injuries due to the fragility of the bones, the blood vessels, and the internal organs. Special health needs may include pulmonary (breathing issues) and a possible increased risk for heart valve problems. Weight management, healthy diet, appropriate exercise, and maintenance of bone mass are the cornerstones of health management for adults.

Some of the issues to keep track of are: routine screenings for vision, dental, and hearing; obtaining a baseline Quantitative Pulmonary Function Test (PFT) to monitor Lung Function; a baseline echo-cardiogram for young adults with blood pressure monitoring; post-menopausal changes to spine, joints, and signs of arthritis; changes in pain level; and potential for non-OI problems.

When discussing medications with your doctor, make sure that you discuss adjusting the dose of medication to your weight and height, rather than age; monitor the use of NSAIDS due to the link to delayed bone healing after fracture; minimize the use of drugs that contain steroids because of the negative effects on bone; and discuss your risk of spontaneous tendon rupture seen in people with a connective tissue disorder when using antibiotics known as fluroquinolones (Cipro, Levaquin).





Spoiler: Pregnancy



*Gynecologic Concerns of Women with OI*
Girls with OI Type I and Type IV can expect to begin menstruating at the same age as, or just slightly later than, girls who do not have OI. However, girls with OI Type III may experience a delay of several years before beginning to menstruate (Reed). This type of delay has been associated with an increased risk for osteoporosis in the general population. Once menstruation starts in girls with OI, their cycles are generally regular although heavy bleeding may occur in girls and women who have a history of easy bruising or bleeding tendencies. There is no evidence to suggest that fertility is influenced by OI. However, miscarriage rates may be higher among women who have OI.

*Obstetric Concerns of Women with OI*

There are a number of areas of concern when women with OI become pregnant. These include the following:
Although many women with mild OI experience few adverse effects from pregnancy, they may have loose joints, reduced mobility, increased bone pain, and dental problems during pregnancy.
All pregnant women experience changes in their bone density during pregnancy, but there is concern that women with OI do not regain the lost bone density after pregnancy, or do not regain it as quickly as other women.
Short stature, spinal curvature, and rib cage deformities can lead to complications when already crowded internal organs must accommodate a growing fetus. Complications can range from breathlessness and discomfort to more serious problems that necessitate early hospitalization or premature delivery. Monitoring of respiratory function may be indicated.
Pregnancy is not clearly associated with increased maternal fracture risk. However, carrying a child to term can place additional stress on weakened bones and loose joints. A woman might be more likely to fall when her growing abdomen disrupts her balance. Obstetrical manipulation during delivery may result in fractures.
Women with OI have reported several other pregnancy complications. It is not known whether they occur more frequently or severely in women with OI than in other women. These complications include pre-eclampsia (characterized by high blood pressure, protein in the urine, and body swelling); premature delivery; placenta previa (when the placenta covers the cervical opening); premature rupture of membranes; recurrent urinary tract infections; anemia (low red blood cell count); and calcium deficiency.
A history of pelvic fractures and/or pelvic deformities may necessitate cesarean delivery.
Women with a history of easy bruising, recurrent nosebleeds or bleeding tendencies following previous surgeries may be more susceptible to excessive bleeding after delivery. Blood coagulation and platelet tests may be prescribed prior to the delivery date as a precautionary measure.
Potential anesthesia concerns for women with OI include hyperthermia (raised body temperature), or an inability to receive epidural anesthesia due to spinal curvature or compression.
A recent Scottish study of back pain in pregnant women who have OI suggests that vertebral crush fractures are common and that caesarian section does not prevent this problem. (McAllion) • After the baby is born, the mother with OI may also experience increased bone pain, susceptibility to fracture, or other connective tissue problems.






Spoiler: Infant Care



The infant may have an unusually soft skull, startle very easily, have bone deformity and have fractures, often of the ribs or long bones,
that are in various stages of healing.

Handling Suggestions

All movements should be slow, methodical and gentle.
Never push, pull, twist, bend, apply pressure or try to straighten arms or legs.
 Infants with OI should not be picked up under the axillae or around the rib cage because this can cause rib fractures.
The head and trunk should be supported with one hand while the other hand supports the buttocks.
Keep fingers spread apart to provide a wider base of support and an even distribution of support pressure.
When lifting or turning the baby for feeding, dressing or diapering, apply support to the broadest possible area. One safe and effective way is to slide one hand underneath the child’s buttocks to the back with some support under the head. Place the other hand on the chest and abdomen “sandwiching” the baby between the two hands.
When diapering the baby, do not lift the baby by the ankles (as this could result in a fracture). Slide your hand under the buttocks to gently roll the baby onto one side to remove/ replace the diaper.
Infants with fractures may be immobilized with a cast or splint to reduce motion and provide stabilization. Such infants must not be placed prone on their stomachs because suffocation can occur.
Care should be taken when changing dressings and bedding to protect the infant’s arms, wrists and fingers.
When dressing the infant, bring garments over the limb; do not pull the limb through the sleeve or pants leg. Pulling, twisting or getting caught in clothing can cause fractures.
It is important that babies with OI receive affection and are held and touched by parents and other caregivers.
Feeding

Some babies display a weak sucking reflex and may require small, frequent feedings. 
The combination of small stature, feeding problems, and slow growth may be mistaken for failure to thrive.
Rapid respirations can predispose to aspiration. 
When feeding the infant, the mother should be especially careful to avoid having the baby positioned with an arm behind the back or a leg pressed against the mother’s body in such a way as to put pressure on it at an abnormal angle.
Burping should be done very gently to reduce the chance of fractures, especially of the ribs. 
Soft taps, possibly with padding over the hand, are recommended. 
Gently rubbing the baby’s back while taking gentle bouncing steps may also be beneficial.
Bedding

A standard crib mattress is most suitable for the baby with OI. Waterbeds and soft bedding should never be used.
Positioning

Infants who spend an extended period of time in the nursery should be repositioned regularly. 
The unusually soft skull can be flattened from prolonged time in any one position. 
Occasionally a gel pad is necessary to protect the back of the skull. 
Rolled blankets or sheets or soft foam wedges can support side lying. 
Rib fractures, a deformed chest, etc., will preclude placing the baby in the prone position (on the stomach).






Spoiler: Medical Professionals



Some other concerns with OI:

OI bone is fragile and can easily fracture proximal to a cast of “normal” weight. Fracture immobilization should be with the lightest materials possible.
Falls and car accidents may cause more extensive injury to the person with OI than the same amount of force would inflict on others.
General Guidelines for Emergency Treatment

People with OI often have ongoing medical and surgical needs, and have substantial experience with fracture management and orthopedic procedures. Respect the opinions, wishes, advice, or instructions of adults with OI, parents of children with OI, and older children with OI.
Because bones are brittle, the severity of a fracture is not always directly related to the level of trauma. There may be no external sign of injury. Fractures are also unpredictable; a person with OI might have a serious fall or accidents with no fractures but then go on to fracture during normal daily activities.
Allow parents to stay with their child at all times. This not only comforts the child, but the parent may be able to help with transferring the child or ensuring that safety precautions are used to prevent additional injury.
Safety Precautions

Be gentle and cautious during transfers; avoid sudden pulling of limbs, neck, or spine. Never twist, bend, apply pressure to, or try to straighten limbs. Some limbs cannot be straightened because of deformity. Parents, family members and/or older patients can provide guidance here.
People with OI often bruise easily; therefore, IVs and blood draws should be done by the most experienced person available.
Guard against placing a tourniquet or inflating a blood pressure cuff too tightly, which can lead to bruising or fractures when OI is severe. Automatic blood pressure cuffs may put too much pressure on the arm bone; set the cuff at the lowest possible inflation, and if possible, establish a baseline by first taking manual blood pressure measurements.
Ask neonatal or pediatric nursing staff to help with medical procedures involving children and adults with OI who are very small.
Some people with OI have a slightly increased risk of high urine calcium levels. Some people with OI have hyperhydrosis and may need significant fluid replacement. Otherwise, metabolic and blood chemistries should be unremarkable. Treatment should be per usual, with doses of medicines titrated to body weight, not age, even for adults with OI.
Normal-sized medical equipment may not fit people with OI who are smaller than average. Pediatric-sized equipment may be appropriate for some adults with OI. However, head size is often within normal ranges for a person’s age, even if his or her body is small. Equipment to go on the head or face (such as an oxygen mask) should usually be determined by age.
Stretchers should be padded and not have holes that a small person could slip through.
Use caution when tightening straps on a stretcher, applying splints, using restraints, etc., to avoid causing a fracture.
Make sure that blankets and sheets are not too tight, and be careful when removing them to avoid getting fingers, toes, etc., caught in the folds, which could cause a fracture.
Some people with OI develop hyperthermia under general anesthesia, and some are sensitive to inhaled anesthetics.
Some people with OI have an allergy to latex.
Pain Management

Adequate pain relief is paramount, even prior to x-ray.
If possible, minimize handling before pain relief is administered. Babies and small children may fall asleep when held, only to awaken screaming in pain when moved slightly. Do not hesitate to use splints and wraps to reduce motion of a painful limb and to minimize spasm.
Consider NPO until the need for surgery or surgical application of a cast is assessed by an orthopedist.
X-Rays

The decision to obtain an x-ray should be made jointly with the family or older OI patient.
Often, the x-ray is negative until two or more weeks after the injury. Regardless of x-ray findings, symptom control using a splint, braces, medication, or sling should be provided.
Minimize handling but ensure proper views of affected bones (i.e., it is better to properly position once than to have to repeat x-rays). “Frog leg” views make it easy to see both tibias and femurs.
Allow a parent or other family member to assist in transferring and positioning a child. If the patient is an adult, listen to his or her advice about transferring, and allow a friend or family member to assist if the patient approves.
Determining Whether a Fracture Has Occurred

People with OI frequently have microfractures that are not visible on x-ray immediately following the injury. Due to low bone density, decreased soft tissue reaction, and bone deformity in some people with OI, nondisplaced fractures may not be discernible on early x-rays. Follow-up x-rays one to two weeks later may reveal the fracture because a callus has formed.
If a fracture is suspected due to pain, swelling, the patient’s inability to use the limb (especially in a child), and the patient’s or family’s insistence that it really is broken, treat the limb as if it is broken until follow-up x-rays are taken. If it is fractured, the patient will be much more comfortable with the limb immobilized. If it is not fractured, a few extra days of immobilization should not cause permanent damage.
Soft tissue injury around a fracture is less likely in a person with OI. The bone usually cracks before the ligaments and tendons tear.

Immobilization of Fractures

If an orthopedist is not immediately available, use appropriate splinting techniques to immobilize the affected limb until definitive orthopedic treatment. Bone deformities require added consideration when immobilizing a fracture. If the patient has an orthotic, it can often serve as an effective splint.
Prolonged (more than a few hours) of skeletal traction is usually not effective and delays definitive surgery.
Orthopedics should be called early in the process.
If there is internal fixation (i.e., a rod), splinting or casting may not be necessary, but adequate pain relief is still important.
Casting should be done by the most experienced person available.







*Is it OI or Child Abuse?*

When health care professionals, child welfare workers, and law enforcement officials see an unexplained fracture in a child who appears “normal” and whose bones appear otherwise normal on x-ray, they often suspect child abuse. Tragically, however, OI is often mistaken for child abuse.

When a child has osteogenesis imperfecta:

Fractures may occur during ordinary activities, such as changing a diaper or burping the baby, or when an infant tries to crawl or pull to a stand. There may be no obvious indication that a fracture has occurred, other than the child crying or refusing to put weight on a limb.
All types of fractures may occur, including rib fractures and spiral fractures, with little or no apparent trauma.
The child may bruise easily, again with little or no apparent cause.
There may be no history of OI in the family, as some cases of OI occur due to a spontaneous genetic mutation. In other cases, a parent’s case of mild OI may have gone undiagnosed.
X-rays may reveal old fractures in various stages of healing that went undetected.
The OI child may not exhibit the hallmark clinical features of OI, such as blue sclera, bone deformity, or brittle teeth.
Infants and children with mild or moderate OI may have bones that appear normal on x-rays.
False accusations of child abuse may occur in families with children who have milder forms of OI and/or in whom OI has not previously been diagnosed. Types of fractures that are typically observed in both child abuse and OI include:

fractures in multiple stages of healing
rib fractures
fractures for which there is no adequate explanation of trauma
When the fracture seems incompatible with the reported cause of the injury, child abuse is often suspected. And, unfortunately, when false accusations of child abuse occur, families become victimized.

The following practical advice, together with competent legal advice from a family law attorney, is intended to help parents who have been accused of child abuse.

Each state has its own policy for dealing with child abuse cases. The services of a family law attorney are usually needed. Attorney referral services are generally offered by each state’s Bar Association. If you are not satisfied with the services that your attorney is providing, don’t be afraid to find another attorney to handle your case.
Physicians and social services case workers are required by law to report suspected child abuse. Everyone involved is concerned about what is best for the child.
Seek the best medical diagnosis possible. It is of utmost importance that the health care professional (including, but not limited to, an orthopedist familiar with OI) conducting the evaluation have considerable experience in both diagnosing and treating OI.
A consultation with a geneticist familiar with OI may reveal a family history of mild OI.
If the child is taken from the home, parents can request placement with a grandparent or other relative.
When the problem is resolved, insist that the charges be taken off all records, including computerized records.




































Resources:
Fun Sized Style

Attached is example of poster to be put up above the bed of a hospitalized person with OI and an ER/A&E info pamphplet. Also included are free publications given out to help PT and other professionals.


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## Crimewatcher 44 (Jun 23, 2021)

Great post! So few people are aware of OI, I'm glad to see some factual information being shared. I'd like to add a few points.


OI doesn't affect intelligence.
Osteogenesis Imperfecta Type 2 is almost always fatal. The bones are so soft they feel non-existent.
The blue Sclera in individuals with type 3 doesn't always fade.
Some individuals may be helped by Bisphosphonate medications, usually pamidronate.


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## Jamila (Jun 23, 2021)

Never 4get Sean Stephenson, who had OI and passed away in 2019. He was a motivational speaker and actually pretty damn good compared to a lot I've seen.


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## GenociderSyo (Jul 8, 2021)

Wanted to show an example of a disorder that has been heavily genetically looked at to give an idea of just how specific disorders can be:

*Epidermolysis Bullosa
(1 out of every 50,000 births has one type of EB)*​
This disorder is a genetic skin disorder characterized clinically by blister formation from trauma (trauma being as small as a touch). There is a spectrum of severity, and within each type, one may be either mildly or severely affected. Friction causes blister formation. Blisters can form anywhere on the surface of the skin, within the oral cavity and in more severe forms may also involve the external surface of the eye, as well as the respiratory, gastrointestinal and genitourinary tracts. This can cause disfiguring scars and disabling musculoskeletal deformities to occur. There are a few versions that are neonatal lethal because they involve a full thickness complete absense of any skin.

Children with this disorder have multiple blistesr that must be taken care of invloving lancing, etc. They must to keep infection down be bathed in water with different bleach concentrations.

*EB Simplex 


*
This is the most common type of EB consisting of 70% of all cases of EB. The missing protein that allows the skin to heal effects the upper layer of the skin ( the epidermis) only. This type is inherited in an autosomal dominant manner. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome.


Spoiler: Breakdown




*Localized EBS (Previously known as Weber-Cockayne) - *Noted Clinical Symptoms
Skin blistering begins at birth or in early infancy. The intra-epidermal blistering is superficial, leading to erosions and crusts, and is enhanced by heat, humidity and sweating. The tendency to blistering diminishes in adolescence, when it may become localized to hands and feet. Blisters may heal with hyperpigmentation.
Milia (tiny white bumps that look like whiteheads) may occur in the first weeks of life.
Plantar keratoderma (thickening of skin on hands and feet) occurs and develops gradually, is painful, may reduce mobility, and may strongly impair quality of life.
EB naevi (large lesions that may become cancerous) are common.
Nails may be thick and dystrophic.

*Intermediate EBS (Previously known as EBS generalized-severe or EBS Köbner)*- Noted Clinical Symptoms
Skin blistering begins at birth. The intra-epidermal blistering is superficial, leading to erosions and crusts, and is enhanced by heat, humidity and sweating. The tendency to blistering diminishes in adolescence, when it may become localized to hands and feet. Blisters may heal with hyperpigmentation.
Blistering is generalized, but less severe compared to Severe EBS.
Milia may occur in the first weeks of life.
Plantar keratoderma occurs and develops gradually, is painful, may reduce mobility, and may strongly impair quality of life.
EB naevi are common.
Nails may be thick and dystrophic.

*Severe EBS (Previously known as EBS generalized severe or EBS Dowling-Meara) - *Noted Clinical Symptoms
Skin blistering begins at birth. The intra-epidermal blistering is superficial, leading to erosions and crusts, and is enhanced by heat, humidity and sweating. The tendency to blistering diminishes in adolescence, when it may become localized to hands and feet. Blisters may heal with hyperpigmentation.
Milia may occur in the first weeks of life.
The oral mucosa is usually involved in infants.
Skin fragility is very prominent at birth, and congenital ulcerated areas on hands and feet as well as nail involvement are common. In the neonatal period, large tense blisters can occur after minimal mechanical trauma or spontaneously. The condition may be life threatening in the first year of life.
Plantar keratoderma occurs and develops gradually, is painful, may reduce mobility, and may strongly impair quality of life. Confluent palmoplantar keratoderma is mostly seen in severe EBS.
EB naevi are common.
Nails may be thick and dystrophic.
Gastro-oesophageal reflux may occur in infancy, often needing aggressive medical treatment.
Growth retardation is common in infants.

*Rare EBS Subtypes*
*EBS with Mottled Pigmentation - *Noted Clinical Symptoms
Skin blistering starts at birth and is generalized, of intermediate severity.
Mottled or reticulate pigmentation develops gradually
Focal keratoses of the palms and soles, and dystrophic, thickened nails occur over time.
Autosomal dominant inheritance.

*EBS, Migratory Circinate Erythema - *Noted Clinical Symptoms
Multiple vesicles are present from birth onwards and acquire over time a typical circinate migratory pattern on an erythematous background; post-inflammatory hyperpigmentation develops gradually and may have a mottled patter
Nails may be dystrophic.
Autosomal dominant inheritance.

*EBS, Intermediate with Cardiomyopathy *- Noted Clinical Symptoms
Extensive skin defects on the extremities are present at birth and heal with hypo- and hyperpigmentation and skin atrophy, initially resembling burn-like scars. Skin blistering diminishes in adulthood, but fragility persists, with erosions occurring after minimal mechanical trauma.
Diffuse or focal plantar keratoderma.
Nail thickening and onychogryphosis (discolored, elongated nails).
Diffuse alopecia (hair loss) has been reported in some adult patients.
Dilated cardiomyopathy has been reported in young adulthood. Laboratory screening (pro-BNP, creatine kinase, creatine kinase MB) should be started as early as the age of 2 years, with yearly follow-ups. If pathologic values are found, cardiologic examination, ECG and cardiac ultrasound should be performed.
Autosomal dominant inheritance.
High rate (50%) of de novo (new or novel) mutations.

*Recessive EBS, Intermediate or Severe with Keratin 14 or 5 Pathogenic Variants - *Noted Clincal Symptoms
Skin blistering starts at birth and is generalized and severe in most cases. No improvement of cutaneous fragility is expected with age. Healing of lesions leads to post-inflammatory hyperpigmentation.
Absence of keratin 5 leads to widespread blisters and erosions and early lethality.
Autosomal recessive inheritance.

*EBS, Localized or Intermediate with BP230 Deficiency - *Noted Clinical Symptoms
Skin blistering starts at birth or in childhood and is mostly localized to acral (hands, feet, the distal features) extremities.
Plantar keratoderma.
Nail dystrophy.
Autosomal recessive inheritance.

*EBS, Localized or Intermediate with Exophilin 5 Deficiency - *Noted Clinical Symptoms
Generalized skin blistering starts at birth or in infancy. Blistering tendency may diminish with age, while crusts and scabs reflect the fragility of the skin.
Mild mottled pigmentary changes may develop.
Autosomal recessive inheritance.

*EBS, Intermediate with PLEC Pathogenic Variants *- Noted Clincal Symptoms
Skin blistering starts at birth, is mainly acral but may be widespread. The autosomal dominant subtype is characterized by a mild course, mainly acral erosions and postlesional violaceous and hypopigmented macules. Only three cases with the autosomal recessive subtype have been published yet, all of intermediate severity.
Plantar keratoderma.
Dystrophic thickened nails, sometimes onychogryphosis.
No muscular dystrophy.
Autosomal dominant or recessive inheritance.

*EBS, Intermediate with Muscular Dystrophy - *Noted Clinical Symptoms
Generalized skin blistering starts at birth and is of intermediate severity. Blistering tendency diminishes with age.
Focal plantar keratoderma.
Nail dystrophy and loss.
Mucosal involvement including oral, ocular and urethral mucosae is common.
Dental anomalies.
Muscular dystrophy starts at a variable age, ranging from infancy to adulthood.
Cardiomyopathy may be associated.
Granulation tissue and stenosis (narrowing) of the upper respiratory tract and hoarseness may occur.
Muscular dystrophy is usually life-limiting in childhood or early adulthood.
Pyloric atresia (blockage between stomach and small intestine or actual seperation of the two) may be associated in rare cases.
Autosomal recessive inheritance.

*EBS with Pyloric Atresia - *Noted Clinical Symptoms
Widespread full-thickness congenital absence of skin.
Pyloric atresia.
Involvement of the oral mucosa.
Anemia and growth retardation.
Neonatal lethal course.
Autosomal recessive inheritance.

*EBS, Localized with Nephropathy (Kidney Failure) with CD151 Deficiency - *Noted Clinical Symptoms
Only a few individuals with this subtype have been reported so far in the literature.
Skin blistering starts at birth and is widespread primarily in the pretibial area but also scattered on other parts of the body, particularly those exposed to trauma.
Facial freckling, poikiloderma and atrophy of the skin, and acrogeria of the backs of the hands on the sun-exposed areas reported in one case.
Erosions of the oral mucous membranes.
Nail dystrophy.
Early-onset alopecia.
Nasolacrimal duct stenosis (Blocked tear ducts).
Oesophageal (food-pipe in layman's terms) webbing and strictures.
Nephropathy manifesting with proteinuria. The scarcity of reported cases precludes firm screening recommendations, but annual urinalysis and urea and electrolytes should probably be undertaken following diagnosis.
Autosomal recessive inheritance.






*EB Junctional*



This form of AB is an autosomal recessive disorder characterized by moderate to severe skin blistering due to issues affecting the basement membrane, which is the structure that keeps the epidermis (outer) and dermis layers together, meaning the skin breaks apart easily causing blistering. The severity varies considerably with the most severe type leading to death between 6–24 months of life. This is the least common of the three main forms of EB.


Spoiler: Breakdown




*Intermediate JEB (Previously known as JEB generalized intermediate or non-Herlitz JEB) - *Noted Clinical Symptoms
Blistering begins at birth or shortly afterwards. Blisters tend to rupture leaving erosions, which can become extensive. Areas of ulcerated skin may be present at birth, most commonly on the lower limbs or dorsa of the feet and ankles. Blisters and ulcers may heal with atrophic scarring and variable hypo- or hyperpigmentation.
Blistering is generalized but less severe in intermediate JEB, usually without the tendency for developing chronic granulation tissue although this can occur in chronic wounds.
Development of cutaneous squamous cell carcinoma (SCC) can occur in adulthood.
EB naevi may occur.
Involvement of the oral mucosa occurs.
Ocular involvement with corneal blistering and erosions. Pannus formation, scarring and symblepharon (the conunctivi in the eye become fused) may follow episodes of blistering.
Involvement of the genitourinary tract can occur but most commonly presents in older individuals with urethral stricture disease.
Nails are usually lost or dystrophic with atrophy, thickening or ridging of the nail plate.
Scarring or non-scarring alopecia and diffuse hair loss can occur.
Dental enamel defects occur.

*Severe JEB (Previously known as JEB generalized severe or Herlitz JEB)*- Noted Clinical Symptoms
Blistering begins at birth or shortly afterwards. Blisters tend to rupture leaving erosions, which can become extensive. Areas of ulcerated skin may be present at birth, most commonly on the lower limbs or dorsa of the feet and ankles. Blisters and ulcers may heal with atrophic scarring and variable hypo- or hyperpigmentation.
Usually results in death in the first 24 months due to failure to thrive, airway involvement or sepsis.
Infants usually develop profound failure to thrive despite adequate nutritional intake.
Blisters may be few the first couple weeks of life and tend to occur on the buttocks, elbows, and around the nails; however, despite an initially mild clinical picture, JEB severe must be suspected. From a few weeks to months of age, wounds may become chronic with a bed of friable granulation tissue. This commonly affects the face, ears and distal digits. Persistent large gluteal (butt) wounds are common.
Involvement of the oral mucosa occurs. Typically associated with laryngeal mucosal involvement with blistering, erosions, granulation tissue and scarring giving rise to hoarseness, stridor and potentially life-threatening airway obstruction.
Ocular involvement with corneal blistering and erosions. Pannus formation, scarring and symblepharon may follow episodes of blistering.
Involvement of the genitourinary tract can occur.
Loss of all nails in the first few months of life with the development of friable granulation tissue and soft tissue swelling of the distal digits.
Scarring or non-scarring alopecia and diffuse hair loss can occur.
Anaemia is common.
Dental enamel defects occur.

*Rare JEB Subtypes*
*JEB with Pyloric Atresia - *Noted Clinical Symptoms
Full thickness skin loss over extensive areas of the head, trunk and limbs at birth.
Subsequent severe skin fragility.
Skin loss can cause deformity of structures such as the ears and nose. Severe phenotypes can present with rudimentary ears.
Nail dystrophy and loss.
Pyloric atresia is usually evident within the first days-week of life.
May have atresia at other gastrointestinal sites e.g. duodenal or anal.
Usually lethal within the first few weeks of life despite surgical correction of pyloric atresia.
Milder, non-lethal forms have less severe skin and nail involvement but with frequent genitourinary tract involvement.

*JEB Localized - *Noted Clinical Symptoms
Limited cutaneous fragility and blistering, often only acral
Variable nail dystrophy and mucosal involvement.
Variable dental enamel defects.
Normal hair.
Autosomal recessive inheritance.

*JEB Inversa *- Noted Clinical Symptoms
Onset of blistering from birth in flexural sites (joints and folds).
Atrophic scarring.
Dental enamel abnormalities.
Variable nail loss.

*JEB Late Onset *- Noted Clinical Symptoms
Onset of skin fragility in childhood often starting acrally.
Progressive fragility with age.
Healing with skin atrophy and loss of dermatoglyphs (fingerprints, etc.).
Scarring leading to flexion contractures of the fingers and reduction of mouth opening may occur with age.
Variable dental enamel and nail involvement.
Autosomal recessive inheritance.

*JEB-laryngo-onycho-cutaneous (LOC) syndrome (Also known as Shabbir Syndrome) - *Noted Clinical Symptoms
Onset of skin fragility from birth with blistered areas leaving erosions and granulation tissue (much more than JEB severe).
Predilection (preference) for the face and neck.
Nail dystrophy and loss with granulation tissue of the nail beds.
Conjunctival and eyelid granulation tissue leading to symblepharon, scarring and impaired vision.
Laryngeal granulation tissue leading to respiratory obstruction which can be lethal.
Profound Anaemia is a major feature due to bleeding from over granulating wounds.
Autosomal recessive inheritance.
Most cases in Punjabi Muslim individuals with a homozygous founder single nucleotide insertion mutation in exon 39 of LAMA3 which is specific to the LAMA3A isoform.

*JEB with interstitial lung disease and nephrotic syndrome (Also Known as ILNEB) - *Noted Clinical Symptoms
Variable cutaneous features with absence or presence of skin fragility from infancy.
Nails may be dystrophic and hair may be sparse.
Interstitial lung disease and nephrotic syndrome predominate the phenotype, and can be diagnosed soon after birth.
Death in infancy or early childhood is the norm.






*EB Dystrophic


*
This form of EB is characterized by a plane of skin cleavage in the lowest section of the skin. This corresponds to the level of the anchoring fibrils, reflecting the underlying molecular pathology in the gene coding for the main component of these structures, type VII collagen. This may be inherited as a dominant or recessive trait; generally, the recessive form is more severe.


Spoiler: Breakdown




*Localized DDEB *- Noted Clinical Symptoms
Onset of skin fragility is usually from birth or early childhood and is limited in anatomical extent. This may be predominantly acral in distribution or just affect the nails with progressive dystrophy and loss, mainly of the toenails. Some individuals have a predominantly pretibial distribution of blistering and scarring; in this form symptoms may not develop until later childhood or adulthood.
May present solely with loss or dystrophy of the nails, most commonly the toenails.
EB naevi may occur.
The oral mucosa may be involved with blistering, erosions and scarring.
Recurrent blistering and fissuring around the anal margin are common in all forms of DEB.
Constipation is common due to pain on defection resulting from anal fissuring and blistering, exacerbated by poor intake of fibre-rich foods when intake is compromised.

*Intermediate DDEB (Previously known as Generalized DDEB) *- Noted Clinical Symptoms
Manifest with more generalized skin fragility, scarring and milia from birth or early childhood, with a predilection for bony prominences including the elbows, knees, ankles and dorsa of the hands and feet.
The risk of developing SCC (cutaneous squamous cell carcinoma*) *is also increased in intermediate DDEB, RDEB and, to a lesser extent, localized DDEB, but is less common than in severe RDEB and occurs later in adulthood.
EB naevi may occur.
The oral mucosa may be involved with blistering, erosions and scarring.
Oesophageal blistering and scarring are common in severe and intermediate forms of DEB. Left untreated, progressive strictures can significantly limit oral nutritional intake.
Recurrent blistering and fissuring around the anal margin are common in all forms of DEB.
Involvement of the conjunctiva and cornea is common, leading to corneal erosions, scarring, pannus, symblepharon formation and reduced visual acuity.
Nail dystrophy and loss secondary to trauma are common.
Nutritional impairment may occur; it results from reduced intake due to factors such as microstomia, dental caries and oesophageal stricture disease, in combination with increased metabolic demands due to chronic wounds, infection and inflammation.
Constipation is common due to pain on defection resulting from anal fissuring and blistering, exacerbated by poor intake of fibre-rich foods when intake is compromised.

*Intermediate RDEB (Previously called RDEB generalized intermediate or non-Hallopeau-Siemens RDEB)*- Noted Clinical Symptoms
Manifest with more generalized skin fragility, scarring and milia from birth or early childhood, with a predilection for bony prominences including the elbows, knees, ankles and dorsa of the hands and feet.
Mild flexion contractures or a striate-pattern of keratoderma of the fingers and limited digital fusion in the proximal digital web spaces may occur.
The risk of developing SCC is also increased in intermediate DDEB, RDEB and, to a lesser extent, localized DDEB, but is less common than in severe RDEB and occurs later in adulthood.
EB naevi may occur.
The oral mucosa may be involved with blistering, erosions and scarring.
Oesophageal blistering and scarring are common in severe and intermediate forms of DEB. Left untreated, progressive strictures can significantly limit oral nutritional intake.
Recurrent blistering and fissuring around the anal margin are common in all forms of DEB.
Involvement of the conjunctiva and cornea is common, leading to corneal erosions, scarring, pannus, symblepharon formation and reduced visual acuity.
Nail dystrophy and loss secondary to trauma are common.
Nutritional impairment may occur; it results from reduced intake due to factors such as microstomia, dental caries and oesophageal stricture disease, in combination with increased metabolic demands due to chronic wounds, infection and inflammation.
Constipation is common due to pain on defection resulting from anal fissuring and blistering, exacerbated by poor intake of fibre-rich foods when intake is compromised.

*Severe RDEB (Previously known as RDEB generalized severe or Hallopeau-Siemens RDEB)*- Noted Clinical Symptoms
Skin blistering is widespread and manifests from birth with significant fragility from minor skin trauma. From infancy, blistering is more marked over bony prominences and causes extensive scarring which can lead to flexion contractures of the large joints.
Progressive pseudosyndactyly (digital fusion), flexion contractures and distal resorption of the digits lead to mitten deformities of the hands and feet.
Chronic wounds are frequent at sites of repeated blistering.
Congenital skin ulceration is a common presenting feature in neonates.
The development of aggressive cutaneous SCC is very common and a frequent cause of death, increasing in incidence from the teen years onwards, arising in areas of repeated trauma, wounds and scarring.
EB naevi may occur.
The oral mucosa may be involved in all forms of DEB with blistering, erosions and scarring but changes are most extensive and marked in severe RDEB.
Progressive scarring leads to microstomia (small oral opening and mouth) and ankyloglossia (tongue tie) , which can result in dental overcrowding and malalignment, and the development of secondary caries.
Oesophageal blistering and scarring are common in severe and intermediate forms of DEB. Left untreated, progressive strictures can significantly limit oral nutritional intake.
Recurrent blistering and fissuring around the anal margin are common in all forms of DEB.
Involvement of the conjunctiva and cornea is common, leading to corneal erosions, scarring, pannus, symblepharon formation and reduced visual acuity.
Urethral strictures may occur.
Nail dystrophy and loss secondary to trauma are common. Nails are usually lost progressively during the first several years of life.
Scarring alopecia and crusting are common with increasing age.
Nutritional impairment is common; it results from reduced intake due to factors such as microstomia, dental caries and oesophageal stricture disease, in combination with increased metabolic demands due to chronic wounds, infection and inflammation.
Constipation is common due to pain on defection resulting from anal fissuring and blistering, exacerbated by poor intake of fibre-rich foods when intake is compromised.
A mixed picture of Anaemia due to iron deficiency and inflammation is common.
Osteopenia, osteoporosis and vertebral fractures are common and may be due to reduced mobility, chronic inflammation, vitamin D and calcium deficiency, and pubertal delay.
Renal impairment and failure may occur as a result of acute kidney injury, post-streptococcal glomerulonephritis, renal amyloid or IgA nephropathy.
Cardiomyopathy may rarely arise.

*Rare DEB Subtypes*
*DDEB, pruriginosa and RDEB, pruriginosa - *Noted Clinical Symptoms
Prurigo presents like eczema.
Usually presents initially as localized or intermediate DDEB or RDEB in childhood and early adulthood.
Characterized by intensely pruritic (itchy), excoriated violaceous papules or linear plaques and scars particularly on the lower legs, thighs and arms which can become more progressive from adolescence through adulthood.
Nail dystrophy and milia are common.
May co-exist with non-pruriginosa DEB within families.
Autosomal dominant or autosomal recessive inheritance.

*DDEB, self-improving and RDEB, self-improving (Bullous Dermolysis of the Newborn)- *Noted Clinical Symptoms
Skin blistering presents at or shortly after birth, usually on the extremities.
Aplasia cutis (absense of skin) of the lower limbs may be present.
Scarring and milia occur at sites of blistering.
Skin fragility improves spontaneously and may resolve completely over the first year or two of life although nail dystrophy, particularly of the toenails, may persist throughout life.
Autosomal dominant or autosomal recessive.

*RDEB, Inversa - *Noted Clinical Symptoms
In the neonatal period and childhood skin blistering is usually generalized and of intermediate severity.
From adolescence to early adulthood, a predilection for flexural sites develops, specifically in the axillae, groins, perianal area and natal cleft. In women, there may be marked vulvovaginal and inframammary skin blistering.
Mucosal disease with blistering and scarring in the mouth and oesophagus is characteristic.
Involvement of the external auditory canal may lead to narrowing or complete occlusion.
Nail involvement is common.
Autosomal recessive inheritance.

*RDEB, Localized - *Noted Clinical Symptoms
Skin fragility usually presents at or shortly after birth but may rarely be of late onset in adulthood.
Blistering is limited in extent; it may affect predominantly the hands and feet, but in others may be restricted to the pretibial area.
Nail dystrophy and loss are common.
Oral and esophageal mucosal involvement are usually mild or absent.
Autosomal recessive inheritance.

*Dominant and recessive compound heterozygous DEB - *Noted Clinical Symptoms
Severe skin and mucosal fragility presenting from birth indistinguishable from severe RDEB.
May have a family history of DDEB in family members.






*Kinder*



This is a rare type of EB with about 250 affected individuals reported worldwide since the first description in 1954. It is more common in isolated or consanguineous populations.

Skin blistering begins at birth and is generalized with predilection for the extremities. The tendency to blistering decreases with age.
Skin atrophy and poikiloderma (discolored and broken down) start on the dorsal aspects of the hands and on the neck during childhood and extend to the entire integument.  Diffuse palmoplantar keratoderma and loss of dermatoglyphs.
Photosensitivity is of variable severity.
SCC on extremities, lips or oral cavity develop in young adulthood, have a severe course and cause premature death related to the disease.
Gingivitis with tooth loss, gingival hyperplasia, oesophageal strictures and colitis in a few cases.
Urogenital strictures.
Ectropion (lower eyelids drop and turn outwards), corneal erosions.
Nail dystrophy.
*EB Acquisita (EBA)*

Rarest Form of EB
Only form of EB not caused by gene mutations
Autoimmune disease whereby the body starts to attack its own healthy body tissue.
Any trauma, no matter how minimal it may seem, is likely to cause the skin of an EB child or adult to tear or blister. The following are recommended ways to avoid or minimize this problem:

Reducing friction: Extreme care should be employed in handling the skin of any patient with EB.
Non-adhesive bandages and dressings: Adhesive or semi-adhesive dressings, bandages, Band-aids, or tape should not be used on the surface of the skin. Instead, wounds should be covered with an appropriate non-adhesive dressing and then further wrapped loosely with rolled gauze. This can be secured by using a tubular dressing retainer.
Keeping the skin cool: Nothing hot should ever be applied to the skin of a patient with EB. In particular, bath water should be no warmer than body temperature. Patients should avoid prolonged exposure to ambient heat and humidity. If possible, air conditioned environments should be sought whenever possible.
Managing blisters: Because blisters in EB are not self-limiting, and can fill with fluid and grow quite large, they need to be drained.
Clothing: In younger children, diapers may require additional padding at the legs and waist. Whenever possible, loose-fitting garments should be worn. If blisters develop from the seams of clothing, garments may be worn inside-out and tags, cuffs and necklines may be removed. Loosely-fitted, padded shoes are generally better tolerated.
Nutritional deficiencies: Many children with EB become anemic due to a chronic loss of blood through wounds, poor nutritional intake, poor absorption of iron and bone marrow suppression from chronic inflammation. It is important to work with a nutritionist experienced in the care of special needs patients. Treatment for iron deficiency anemia is often necessary. Other patients have selenium and carnitine or vitamin D deficiencies which may predispose them to cardiomyopathy and osteoporosis. Many patients develop failure to thrive and require feeding gastrostomies.
Monitoring for cancer: Squamous cell carcinoma is the leading cause of death in EB usually occurring after the 2nd decade of life. Patients with RDEB and JEB are at increased risk of developing skin cancers during their lifetimes. It is very important that all EB patients have at least yearly examination of all skin areas.

There is a clinical trial being done to use bone marrow transplants to help the most debiliating and extreme form of EB a documentary on this can be found here:



























































I really reccomend the documentary about Johnny Kennedy the dude has a very realistic view of his impending death and a good attitude towards his life.

*Resources:*
https://www.debra.org
https://www.debra.org.uk
https://www.ebmrf.org/
EB Partnership Youtube
Debra UK Youtube


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## The Cunting Death (Jul 28, 2021)

Spunt said:


> Fatal Familial Insomnia is probably the only other condition that terrifies me as much as Fibrodysplasia Ossificans Progressiva. It's a prion disease that causes brain degeneration and like other prion diseases our understanding of its causes is minimal (other than there is a genetic factor, but not everyone with the gene gets it - something methylates the gene and we have no idea what) and there is no cure, and barely any treatment - some animal trials suggest amphetamines might slow it down a bit. That's all. Fortunately the mutation is vanishingly rare (only 40 families worldwide are believed to carry it) and if you don't have that gene you won't get this disease. Thank fuck.
> 
> In short: you stay awake until you go insane and die. The part of your brain that governs sleep has turned into useless sponge, so you 100% are physiologically incapable of sleep. On average, people who die from this will not have slept, at all, for nine months. They will have slept very badly for about 9 months before that as well. By the end, most people are in a permanent mute, catatonic state after months of 24/7 panic and madness. Whilst on average it takes 18 months to kill you after diagnosis, some people survive for *six years.*
> 
> ...


re-reading this thread, this is the one that scares the fuck out of me the most

edit, also what I said earlier about similar diseases still applies rn


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## Chester Rigby (Jul 28, 2021)

GenociderSyo said:


> *Bosma Arhinia Microphthalmia Syndrome - BAM Syndrome
> (Less then 100 cases have ever been reported)*​This disorder has 3 main featres:
> 
> Complete absence of the nose​
> ...


Also known as Voldemort Syndrome.


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## GenociderSyo (Aug 5, 2021)

*Alternating Hemiplegia of Childhood
(Estimated to occur in approximately 1 in 1,000,000 births)


*​This is a rare neurodevelopmental genetic disorder where there are repeated episodes of weakness or paralysis that may affect one side of the body or the other (hemiplegia) or both sides of the body at once (quadriplegia). These episode also include intermittent abnormal eye movements, episodes of muscle stiffness or posturing (dystonia), and in a substantial percentage of cases, seizures. There are also developmental delays, cognitive impairment, and persistent issues with balance and the presence of continuous dance-like movements of limbs or facial muscles (chorea) which may occur during episodes or independently of them. Severity of the disorder and types of episodes greatly vary between individuals.

The first symptoms usually are seen before the age of 18 months. The most prominent symptom is repeated episodes of weakness or paralysis affecting one side of the body at a time in an alternating fashion. Weakness or paralysis may also sometimes affect both sides of the body or rapidly transition from one side to the other. The length of the episodes can be minutes to hours, but in some cases they occur for several days or even weeks. They also may occur daily, weekly or once every few months. Sometimes only one side of the body is affected more than the other and in quadreplgic episodes one side may recover quicker. Facial muscles may be spared during an episode, but can occur with mouth deviation, slurred speech, and difficulty swallowing. The intensity of individual episodes varies as well and can range from numbness to a complete loss of feeling and movement.

Individuals remain alert and may be able to communicate verbally if facial paresis has not occured. Episodes in AHC cease when sleeping and may not resume for approximately 15-20 minutes upon waking. In severe, prolonged cases, this window of time may allow affected individuals to eat and drink. Episodes can become worse over time and, in severe cases, can make walking unassisted difficult. Some affected individuals may feel tired or unwell shortly before a hemiplegic episode occurs.

Other symptoms that may occur during and independently of episodes include chorea of limbs and face, difficulty breathing, ataxia and dystonia. Dystonia is involuntary muscle contractions that force the body into abnormal, sometimes painful, movements and positions. This dystonic attacks can involve the tongue potentially causing breathing and swallowing difficulties.

During these episodes, some affected individuals may experience dysfunction of the autonomic nervous system, which regulates certain involuntary body functions such as heart rate, blood pressure, sweating, and bowel and bladder control. This can be seen as excessive or lack of sweating, changes in body temperature, skin discoloration, altered pain perception and gastrointestinal problems. Cardiorespiratory problems such as a slow heartbeat (bradycardia), a high-pitched wheezing (stridor), sudden constriction of the walls of the tiny airway branches called bronchioles (bronchospasm), and difficulty breathing or gasping for breath may also develop.

The characteristic episodes that define AHC are not epileptic in nature, although 50% or more of affected individuals develop epilepsy as they get older. These epileptic seizures tend to occur quite less frequently than hemiplegic episodes, but they have a chance to result in status epilepticus, or persistent seizure activity requiring medical intervention. Epilepsy in children with AHC may be intractable in nature, meaning untreatable by medication.

Some infants and children with AHC exhibit developmental delays. Some children may develop this later on due to prolonged, recurrent episodes leading to progressive neurological problems including loss of previously acquired skills and cognitive impairment. Behavioral or psychiatric issues such as impulsivity, short-temperedness, poor communication and poor concentration may also occur. Some affected children may have learning disabilities and issues with skills that require movement and coordination (dyspraxia).

A common, frequent type of spell in infants with AHC results in irregular eye movements including rapid, involuntary, “jerking” eye movements that may be side to side, up and down or rotary (episodic nystagmus). This usually affects only one eye at a time. Some affected individuals may intermittently appear crossed-eyed, where the eyes are misaligned either outward (exotropia) or inward (esotropia).

Diagnostic Criteria

Onset of symptoms before 18 months
Repeated episodes of hemiplegia that sometimes involve both sides of the body
Quadriplegia that occurs as an isolated incident or as part of a hemiplegic attack
Relief from symptoms upon sleeping
Additional paroxysmal attacks such as dystonia, tonic episodes, abnormal eye movements or autonomic dysfunction
Evidence of developmental delay or neurological abnormalities such as choreoathetosis, ataxia or cognitive disability
Cannot be attributed to another cause
No specific therapy exists for individuals with AHC. Treatment is generally focused on trying to reduce the frequency and severity of the characteristic episodes and the management of episodes when they occur. Triggers include psychological stress/excitement; environmental stressors (e.g., bright light, excessive heat or cold, excessive sound, crowds); water exposure (e.g., bathing, swimming); certain foods or odors (e.g., chocolate, food dyes, missed meals); excessive or atypically strenuous exercise; illness; irregular sleep (missing a nap, delayed bedtime. Avoiding triggers to the extent possible is recommended for individuals with AHC. In addition, long-term drug therapy may be recommended to help lessen the frequency of episodes.

A medication which has proved effective in reducing the frequency or severity of episodes in some individuals is a drug called flunarizine, a drug with calcium channel blocking properties. Flunarizine is given as a preventive (prophylactic) agent and has lessened the frequency, duration and severity of non-epileptic episodes in some individuals with AHC. This drug and thus treatment is not avaiable in the United States. Anti-seizure medications (anti-convulsants) are also used either alone or in combination to treat individuals with AHC who also have epilepsy and to prevent non-epileptic symptoms such as hemiplegia and dystonia. The effectiveness of these medications is highly variable and they are often minimally effective or ineffective. Benzodiazepines such as diazepam have been used to reduce the duration of dystonic episodes.

Because some hemiplegic episodes have an early phase where individuals feel unwell, some researchers have recommended using certain medications to prematurely induce sleep. This can lessen the duration and severity of an episode. Such medications include buccal midazolam, chloral hydrate, melatonin, niaprazine or rectal diazepam.

Severe episodes of AHC can require hospitalization. In some cases, epileptic seizures can necessitate urgent medical intervention including intravenous to halt seizures or induce sleep in the setting of severe prolonged dystonia.


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## Kiwi & Cow (Aug 5, 2021)

Interesting thread, I want to contribute to it a little with something a little less gruesome.

Aphasia and Dysphasia​Aphasia is a learning disability involving language. Dysphasia is similar, but considered a less severe form of that learning disability.
It is rather rare with only 1 million Americans affected based on this website: https://www.nidcd.nih.gov/health/aphasia
This website goes further in dept on the disability: https://www.mayoclinic.org/diseases-conditions/aphasia/symptoms-causes/syc-20369518

The major symptoms include

Inability or struggle to remember words, which makes the need to be as vague as possible by saying "thing" or "stuff" instead of the intended word.
Skipping words whilst writing or speaking. The site also says "They often omit small words, such as "is," "and" and "the.""
Easily misunderstanding written or spoken language.
Inability or struggle to speak words like *anarthria and dysarthria.*
Inability or struggle to understand what is being said despite having good hearing.
Speak or write in short incomplete sentences.
There are multiple forms of Dysphasia and Aphasia that may cause some of the symptoms, but not all of them and at different severities.

Type A Dysphasia: Sensory or receptive dysphasia “verbal deafness.”
Type B Dysphasia: Motor or Expressive Language Disorder (Dysphasia)
Type C Dysphasia: Mixed Language Disorder (Dysphasia)
This website also gives out more information for those interested: https://www.healthdivinetips.com/dysphasia/

Dysphasia most often affects spoken language, but may affect written language in some cases since if someone doesn't understand what a spoken word means, they won't understand what it means when it's also written.

Dysphasia being a "-phasia" is related to Dyslexia, an extremely common learning disorder that affects 20% of the population, but Dyslexia only affects reading comprehension whereas Dysphasia affects language comprehension in general. 

Since it develops in so few people, most people will never experience Dysphasia in their life, infact they're more likely to experience Dyslexia instead.


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## Boson (Aug 30, 2021)




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## GenociderSyo (Aug 30, 2021)

Boson said:


> View attachment 2495616
> View attachment 2495619
> View attachment 2495621
> View attachment 2495623


He looks more like someone with this disorder then that type of progeria:





It's amazing the advancements though in treating progeria now.


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## GenociderSyo (Sep 14, 2021)

*Conjoined Twins (Formerly known as Siamese Twins)
(1 in 200,000 live births/75% of cases are female)*



​Types of Conjoined Twins:

Conjunction never involving heart or umbilicus
*



Craniopagus*: Cranial union only, about 2% of all conjoined twins.
*

Pygopagus*. Posterior union of the rump, about 19% of all conjoined twins.

Conjunctions Always involving the Umbilicus (Midline Conjunctions)
*

Thoracopagus*: Anterior union of the upper half of the trunk. The most common form of conjoined twins (about 35%), it always involves sharing the heart.
*

Cephalopagus*: Anterior union of the upper half of the body with two faces on opposite sides of a conjoined head. Extremely rare. The heart is sometimes involved.
*

Cepholothoracopagus: *Combination of Thoracopagus and Cephalopagus and is characterized by the anterior union of the upper half of the body, with two faces angulated variably on a conjoined head.
*

Parapagus/Diprosopus*: lateral union of the lower half, extending variable distances upward, about 5% of all conjoined twins. Heart sometimes involved.
*

Ischopagus*: Anterior union of the lower half of the body, about 6% of all conjoined twins. Heart not involved.
*

Omphalopagus*: Anterior union of the midtrunk, about 30% of conjoined twins.

Rare forms of conjoined twins, having different patterns.


*Rachipagus*: Twins joined along the back of their bodies, with fusion of the vertebral arches and the soft tissue from the head to the buttocks
*Syncephalus*: One head with a single face but four ears, and two bodies.
*

Parasitic twins*: Asymmetrical conjoined twins, one twin being small, less formed, and dependent upon the other.
*Fetus in fetu*: Situation in which an imperfect fetus is contained completely within the body of its sibling.


History:

Over-Encompassing Superstions
Conjoined twins due to impure conception, adultery or witnessing  evil and/or traumatic event during pregnancy.

Earliest Beliefs​
Hippocrates states conjoined twins exist because of there being too much seed available at conception for just one child, but not enough for two distinct beings.​

300 CE​
Moche culture of Peru depicts conjoined twins in ceramics.​





385 CE​
Theopanes the Confessor : Byzatine historian​
"In the village of Emmaus in Palestine, a child was born perfectly normal below the navel but divided above it, so that it had two chests and two heads, each possessing the senses. One would eat and drink but the other did not eat; one would sleep but the other stayed awake. There were times when they played with each other, when both cried and hit each other. They lived for a little over two years. One died while the other lived for another four days and it, too, died."​


415 CE​
St Augustine of Hippo's Book "City of God"​
"A man double in his upper, but single in his lower half--having two heads, two chests, four hands, but one body and two feet like an ordinary man."​


1499​
One of the earliest depictions in illustration was this woodprint:​





1500/1100 CE​
Biddenden Sisters - Mary and Eliza Chulkhurst,​





"After the death of one sister, doctors hoped to save the life of the other by separating them surgically. The surviving twin refused, declaring, "As we came together, we will go together." She died several hours later. Upon their deaths, a local church received 20 acres of land. In remembrance of their generosity, small cakes and biscuits imprinted with the image of the sisters were given to the poor every Easter Sunday. Nearly 900 years after their deaths, the Biddenden Maids are still honored by this unique service."​


1573
French Suregeon Ambroise Paré
Discussed case of a pair of conjoined twins in Italy who were born and exhbited by their parents in  1475.
"Although many of his explanations were superstitious (God's anger, the Devil's influence, God's desire to show power, and the influence of what a pregnant woman saw were all listed as possible explanations), Pare also attributed conjoined twins to several types of constriction, including too tight a womb, tight clothes, and the manner in which a woman sat while pregnant. "


1616
Fortunio Liceti included a print on conjoined in twins in his book "De monstrorum caussis, natura, et differentiis libri duo" as an early example of deformities.

1684
Aristole's *c*_ompleat master piece, in three parts_
"Near Eiseling in Germany, in 1520, a boy was born with one head, and one body, but having four ears, four arms, four thighs, four legs and four feet. This birth the learned who beheld it, judged it to proceed from the redundance of the seed, but there not being enough for twins, nature formed what she could, and so made the most of it. This child lived for some years; and it is surprising that though he had four feet, he knew not how to walk: By which we may see the wisdom of nature, or rather the God of nature, in the formation of the body of man.

Heaven in our first formation did provide,
Two arms and legs and what we have beside,
Renders us monsters and mishapen too,
Nor have we any work for them to do.
Two arms, two legs are all that we can use.
And to have more there's now so many on'd choose."
"In the time of Henry the III. there was a woman delivered of a child having two heads, and four arms, and the rest was a twin unto the navel; and then beneath all the rest was single, as appears in the figure. The heads were so placed, that they looked contrary ways, and each had two distinct arms and hands; they would both laugh, both speak and both cry, and eat and be hungry together: sometimes the one would speak, and the other would keep silence, and sometimes both speak together.—

It was of the female sex; and though it had two mouths, and did eat with them both, yet there was only one fundament to disburden nature. It lived a good many years, but one outlived the other three years, carrying the dead one (for there was no parting of them) till the other fainted away with the burden of the dead carcase, and with the stink that issued from it."
"In Flanders, between Antwerp and Mechlin, in a village called Uthaton, a child was born which had two heads and four arms, seeming like two girls joined together, having two of their arms lifted up between, and above their heads; their thighs being placed as it were across one another, according to the figure. How long they lived, I had no certain account.

Nature does sometimes to us monsters show,
That we by them may our own mercies know:
And thereby sin's deformity may see,
Than which there's nothing can more monstrous be."


1689
First reported successful separation of conjoined twins in Switzerland.

1811
Chang and Eng Bunker







At one point Chang had a stroke and though he survived he was paralyzed and Eng had to support his weight/movements.
"On January 17, 1874, Eng was awakened in the middle of the night by a strange sensation. Looking towards his brother, Eng quickly realized that Chang had died. Eng called for his son William, who ran through the house shouting "Uncle Chang is dead!" Within hours, Eng was dead, too. Several weeks later, the bodies were brought to Philadelphia by a commission appointed by the College of Physicians of Philadelphia. An autopsy was performed by Drs. Harrison Allen and William H. Pancoast at the Mütter Museum. It was determined that Chang had died of a cerebral clot. It was unclear, however, why Eng had died. Some physicians suggested that he died of fright. Today, it is thought that Eng bled to death, as the blood pooled in his dead brother's body."


1851
"The Carolina Twins" Millie-Christine McCoy







"His examination confirmed what other physicians had already determined: Millie-Christine shared one vulva and one anus, but had separate urethras and bladders; the labia majora although connected to two clitorises, ran continuous across the vulva and protected but one vagina and one uterus.  He characterized the band of their union as containing mostly cartilage with shared osseous tissue at the sacrum."


1877
"The Blended Tocci Brothers" Giacomo and Giovanni Battista Tocci





Given by their parents to the Royal Academy of Medicine to be studied and exhibited.
Mark Twain's short story "Those Extraordinary Twins" is in reference to them.


1908
Violet and Daisy Hilton







Sold by their mother to the midwife who then forced them into show business. On her death they were inherited by her children who were even worse to them. They finally were able to get their independence and went on to do the movie Freaks. They didn't make it Hollywood like they wished and ended up as clerks in a supermarket. They died of the flu and its beleived that one sister outlasted the other by two to four days.


1950
Maria and Daria ('Masha and Dasha') Krivoshlyapova







Soviet physiologists stole them from mother to study them via medical tests, considered by most to be torture.
Packing one twin in ice to bring their temperature down to near-fatal levels while observing temperature changes in the other twin
Electrocuting them in time with a metronome to test their reflexes
Burning to see what happened to other twin
Starving to see what happened to other twin
Dehydration to see what happened to other twin
Sleep deprivation to see what happened to other twin

"Masha fell ill on 13 April 2003, complaining of back pain. She died of a heart attack the following day, seventeen hours after the onset of her symptoms. Dasha was taken to the First City Hospital and died another seventeen hours later due to blood poisoning from the toxic by-products of Masha's decomposing body."


1951
Ronnie and Donnie Galyon









1961
Lori and Dori Schappell






Dori transitioned to George around 2010.
George has Spina Bifida and all his care is done by Lori.
It is completely possible for them to be seperated but one does not wish to be and both must consent to surgery.


1970
Ganga and Jamuna Mondal/Ayara and Jayara Ratun  : The Spider Girls/The Spider Sisters







1974
Ladan and Laleh Bijani





So desperate to be seperated that they doctor shopped to find a  doctor willing. They died of blood loss during the surgery.


1988
Katie and Eilish Holton





Seperated in 1992 and only the twin Eilish survived, though both would have died if it was not attempted.


1990
Abby and Brittany Hensel









These twins have spent almost there entire life in the spot light. They have had mutiple documentaries as well as a TLC series about their lives. They complain that they intensely dislike being stared at or photographed by strangers while going about their private lives.
They each control and sense one side of the body and do not have an conscious awareness of the other though they appear to at times work unconsciously in synchronization.
"Each twin manages one side of their conjoined body. The sense of touch of each is restricted to her body half; this shades off at the midsagittal plane such that there is a small amount of overlap at the midline. Stomach aches, however, are felt by only the twin on the opposite side."

They refer to themselves as "I" unless they are not in agreement with something when responding to people.
They currently are teachers teaching Fifth Grade at their local grammar school.


2002
Clarence and Carl Aguirre









2004
Anastasia and Tatiana Dogaru







This is a damned if you do damned if you don't case. While connected one girls kidneys fuel both girls while the other girls heart fuels both girls which is not sustainable. Seperating them though since they share brain matter is a 50/50 chance of surival and certain brain damage.

Manar Maned





Born with the head of his conjoined parasitic twin attached to his own. This parasitic head would blink and smile on its own. When Manar was fed the twin would root as if it wanted to be fed as well.
Seperation was successful but almost a year later Manar would die of a brain infection.


2005
Lakshmi Tatma









"She was one of a pair of ischiopagus conjoined twins, one of which was headless because its head had atrophied and chest had not fully developed in the womb, causing the appearance of one child with four arms and four legs."
Surgery took 27 hours to remove the extra limbs and left her with a very large pelvis requiring further surgery to make her legs closer together.


2006
Kendra Deene Herrin and Maliyah Mae Herrin









2006
Krista and Tatiana Hogan







These twins share portions of their brain and have been shown to actually pass thoughts and sensory information between themselves.


2010
Maria and Teresa Tapia


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## TheCakeIsALie (Sep 22, 2021)

I like progeria. Sam Berns did a really great doc but it made me cry. The mom is a doctor and she knows first hand what will happen to Sam as well as other progeria patients and all she wants is a cure. I’m a sucker for little old looking people. And it’s common enough that most people understand that it causes rapid aging.

also, there was Shiloh Pepin and her tlc special on sirenomelia. She seemed so happy, sadly she died.


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## GenociderSyo (Sep 22, 2021)

TheCakeIsALie said:


> I like progeria. Sam Berns did a really great doc but it made me cry. The mom is a doctor and she knows first hand what will happen to Sam as well as other progeria patients and all she wants is a cure. I’m a sucker for little old looking people. And it’s common enough that most people understand that it causes rapid aging.
> 
> also, there was Shiloh Pepin and her tlc special on sirenomelia. She seemed so happy, sadly she died.


Yea Life of Sam was good. Research has really helped with Progeria they are able to curtail it now with therapies. Shiloh was so damn spunky if you missed it TLC actually had 3 documentaries on her. The last being the saddest since she died during it being made.


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## TheCakeIsALie (Sep 22, 2021)

GenociderSyo said:


> Yea Life of Sam was good. Research has really helped with Progeria they are able to curtail it now with therapies. Shiloh was so damn spunky if you missed it TLC actually had 3 documentaries on her. The last being the saddest since she died during it being made.



the two made was when she was alive, the third one was more of a celebration of life thing, right? The father died too, he seemed really caring. Both her parents really cared a lot about her.

also watch Lion In The House on Netflix if you haven’t  (hopefully it is still on) but be warned, it’s going to make you cry. (It’s about kids with cancer)


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## Sparkling Yuzu (Sep 25, 2021)

So is the trans twin taking T? Wouldn't it effect both of them since they share a body? That doesn't sound fair that the cis twin could be masculinzed too. Which one of them doesn't want to be separated and why are the holding the other twin hostage against their consent? That's major controlling mental issues. 


> Dori transitioned to George around 2010.
> George has Spina Bifida and all his care is done by Lori.
> It is completely possible for them to be seperated but one does not wish to be and both must consent to surgery.


How did Manet's parasitic twin head feed? It doesn't look like he had a stomach yet he wanted to be fed? Where would it go?


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## GenociderSyo (Sep 25, 2021)

Sweet Yuzu said:


> So is the trans twin taking T? Wouldn't it effect both of them since they share a body? That doesn't sound fair that the cis twin could be masculinzed too. Which one of them doesn't want to be separated and why are the holding the other twin hostage against their consent? That's major controlling mental issues.


This was before the current fad of trans when socially transitioning was what many ended up being happy with. Believe the disabled one did not wish to be seperated, but it has been a long time since I watched their documentary.


Sweet Yuzu said:


> How did Manet's parasitic twin head feed? It doesn't look like he had a stomach yet he wanted to be fed? Where would it go?


It was more a reflex then an actual desire to eat I'm guessing.


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## Cakecankles (Sep 25, 2021)

GenociderSyo said:


> This was before the current fad of trans when socially transitioning was what many ended up being happy with. Believe the disabled one did not wish to be seperated, but it has been a long time since I watched their documentary.
> 
> It was more a reflex then an actual desire to eat I'm guessing.


 
exactly. The parasitic twin was a lot like Luna and was not really aware, but did have some reflexes.


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## GenociderSyo (Oct 10, 2021)

Still trying to decide the next disorder to put up so heres some really rare ones in a youtube video:


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## NerdShamer (Oct 10, 2021)

GenociderSyo said:


> Still trying to decide the next disorder to put up so heres some really rare ones in a youtube video:


I'm not watching it because I just ate, and the thumbnail alone reeks of blindness.


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## GenociderSyo (Oct 10, 2021)

NerdShamer said:


> I'm not watching it because I just ate, and the thumbnail alone reeks of blindness.


No idea why that is the thumbnail when the portion on it was only like 10 seconds...But yes one does deal with an eye disorder cased by a missing chromosome.


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## Megatardingo (Oct 10, 2021)

Frank D'arbo said:


> neat as well
> 
> and something I just remembered, said disease caused her to have a weak immune system


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## Everything Beagle (Oct 18, 2021)

Spunt said:


> Fatal Familial Insomnia is probably the only other condition that terrifies me as much as Fibrodysplasia Ossificans Progressiva. It's a prion disease that causes brain degeneration and like other prion diseases our understanding of its causes is minimal (other than there is a genetic factor, but not everyone with the gene gets it - something methylates the gene and we have no idea what).
> 
> In short: you stay awake until you go insane and die.



I read a fantastic book about this!  The Family Who Couldn't Sleep It centers around a Venetian family who inherit it. 

I am kind of a rare-disease nerd.


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## Plarp (Oct 25, 2021)

I have something called Dermatomyositis, which is classified as a rare disease as there's maybe 25,000 people in America who have it.... It's an autoimmune connective-tissue disease that causes painful, itchy dark red rashes but there's muscle symptoms (the myositis part, myo- muscle, itis- inflammation) that go along with it like swelling, weakness and dysphagia.

I cannot stand any sun exposure at all, UV light triggers the disease. If I'm out in the sun for more than a few minutes the dysphagia (swallowing difficulty) gets worse and I can't even swallow my own spit

I have to take low-dose chemotherapy drugs & hydroxychloroquine for it. There's a risk of Interstitial Lung Disease that goes along with it, basically the disease attacks the inner lining of your lungs. This can happen at any time. Its a miserable disease.

here's a pic of my hands this morning:


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## Boson (Nov 11, 2021)

Saw this poor kid on The Twitter. Anyone know or can elaborate on exactly what she has? I tried searching and only found generic brain tumor.


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## GenociderSyo (Dec 28, 2021)

*Morquio Syndrome/Mucopolysaccharidosis IV
(Occurs in 1/40,000 to 1/200,000 births with Type A being 95% and Type B 5% of cases)*​Morquio Syndrome is a mucopolysaccharide storage disease that is autosomal recessive. MPSBoth lead to an accumulation of keratan sulfate (KS) in the cells and tissues of the body. The accumulation of KS in the cornea and bone leads to reduced vision and skeletal deformities, respectively. There are two forms to this disorder the severe form, MPS IVA, which shows between ages one and three and presents with knock-knees and breastbone prominence and the slow progressive form, MPS IVB, which has fewer clinical symptoms and is milder, shows anywhere up to adolesence and presents with hip pain and stiffness. The two types can only be distinguished apart by genetic analysis which shows that MPS IVA occurs because of a deficiency of the enzyme N-acetyl-galactosamine-6-sulfatase (GALNS) and MPS IVB occurs due to a deficiency of beta-galactosidase. This leads to accumulation of mucopolysaccharides in the body, abnormal skeletal development, and other additional symptoms. Most cases of MPS IV have normal intelligence.

Symptoms of MPS IV may include growth delays; a prominent lower face; abnormal sideways and front-to-back or side-to-side curvature of the spine (kyphoscoliosis) or concern for a spine abnormality; an abnormally short neck; knees that are abnormally close together (knock knees or genu valgum); flat feet; abnormal development of the growing ends of the long bones (epiphyses); hip dislocation and arthritis and/or a prominent breast bone (pectus carinatum).  Hearing loss, weakness of the legs, and/or additional abnormalities may also occur. The elbows, wrists, hips, knees and other large joints are abnormally flexible, causing overall instability. High frequency hearing impairment is common.

Affected children have a characteristic facial appearance that may include an enlarged head, broad mouth, prominent cheekbones, an unusually small nose, widely spaced and thinly enameled teeth, and widely separated eyes with subtle corneal clouding.  Affected individuals who are ambulatory willl exhibit a waddling gait with frequent falls.

Skeletal X-rays typically show marked flattening of the vertebra. The long bones of the arms and legs are characteristically shorter and thicker than normal. The skull is large for the rest of the body. The connection between the first and second vertebrae in the neck is poorly developed and this abnormality can be life threatening. A trivial injury may cause the two vertebrae to slip on each other and compress the spinal cord. Surgery to stabilize the upper cervical spine, usually by spinal fusion, can be lifesaving but life expectancy is decreased somewhat despite surgery. The deformity of the chest causes a strain on the heart and lungs, which may eventually cause respiratory failure.

MPS IVA can be treated with enzyme replacement therapy though there is no treatment at this time for MPS IVB. Surgery to decompress and fuse the bones of the upper neck to the base of the skull can prevent destabilization of the cervical vertebrae and potential damage to the spinal cord. The placement of a bioprosthetic or prosthetic valve may be required for affected induvial with ventricular hypertrophy. Enlarged tonsils and adenoids may need to be removed in order to relieve upper-airway obstruction and sleep apnea. Additionally, ventilation tubes and hearing aids may be needed for individuals with hearing loss. Penetrating keratoplasty (corneal replacement) may be needed to treat corneal opacification (scarring or clouding of the cornea), which causes impaired vision.

Children with MPS IVA are of normal intelligence, they usually attend regular classes, but they made need to sit close to the front of the classroom if they have difficulties hearing or seeing. They may also need to use a wheelchair around school grounds.




































Additional booklets about the disorder are attached as well:


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## weegrumpy (Jan 14, 2022)

One of the top of my head is Alice in wonderland syndrome, a neurological  disorder , where perception is altered for short times. Dr. Oliver Sacks described it in one of his books. there is a lot of info, but I’m on me iPad idk how to format it coz lack of sleep… oh shit


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## Queen Of The Harpies (Jan 14, 2022)

weegrumpy said:


> One of the top of my head is Alice in wonderland syndrome, a neurological  disorder , where perception is altered for short times. Dr. Oliver Sacks described it in one of his books. there is a lot of info, but I’m on me iPad idk how to format it coz lack of sleep… oh shit


I had a student with it


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## Everything Beagle (Jan 14, 2022)

GenociderSyo said:


> This was before the current fad of trans when socially transitioning was what many ended up being happy with. Believe the disabled one did not wish to be separated, but it has been a long time since I watched their documentary.
> 
> It was more a reflex then an actual desire to eat I'm guessing.


I've looked them up online, and apparently they share too much brain tissue to be separated.


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## A Detachable Penis (Jan 28, 2022)

Boson said:


> View attachment 2495616
> View attachment 2495619
> View attachment 2495621
> View attachment 2495623


The most common mutation associated with progeria wasn't detected at first because it occurs in the intron part of the gene. These regions are cut out by the splicosome protein comlex prior to them being translated into a protein. So it makes sense that mutations causing disorders wouldn't occur in introns because they don't contribute to the final protein structure.

The mutation occurs right where the splicosome checks to see if a cut should be made. If the right base pairs are there, then it cuts once, keeps reading, then cuts again, taking out the intron and attaching the two ends back together. If not, the intron remains in the gene and adds a bunch of random amino acids to the subsequent protein.


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## Coffee Druid (Jan 28, 2022)

I remember learning about siamese twins as a kid. I couldn't imagine being attached to my sister when we fought or bickered all the time growing up. Now as an adult it raises so many existential questions about personhood. Obviously if the siblings have separate brain functions and personalities and everything I can see that. But it makes me wonder how they'd go about getting a state issued ID, or apply for a job, have a partner, etc. As two attached people. I have no desire to gawk at them, it just makes me wonder a lot of logistical things. 

I technically have a rare genetic disease too. At 1 in 10,000 or so it's not as rare as some others here. It has around 100 different subtypes, but all affect the development of some combination of the skin, hair, nails, teeth, sweat glands, etc. It doesn't affect intellect and is not fatal in any way (except maybe in very rare cases where the sweat glands don't operate). I have a milder subtype, to the point you wouldn't guess I'd have anything by looking at me. Some its more visible. But I have had a ton of dental work as that is one thing that's been majorly affected. It wouldn't dox me to say what it is, but I also don't know if I've already gone too far to avoid TMI stickers.


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## Sparkling Yuzu (Jan 29, 2022)

Coffee Druid said:


> I remember learning about siamese twins as a kid. I couldn't imagine being attached to my sister when we fought or bickered all the time growing up. Now as an adult it raises so many existential questions about personhood. Obviously if the siblings have separate brain functions and personalities and everything I can see that. But it makes me wonder how they'd go about getting a state issued ID, or apply for a job, have a partner, etc. As two attached people. I have no desire to gawk at them, it just makes me wonder a lot of logistical things.
> 
> I technically have a rare genetic disease too. At 1 in 10,000 or so it's not as rare as some others here. It has around 100 different subtypes, but all affect the development of some combination of the skin, hair, nails, teeth, sweat glands, etc. It doesn't affect intellect and is not fatal in any way (except maybe in very rare cases where the sweat glands don't operate). I have a milder subtype, to the point you wouldn't guess I'd have anything by looking at me. Some its more visible. But I have had a ton of dental work as that is one thing that's been majorly affected. It wouldn't dox me to say what it is, but I also don't know if I've already gone too far to avoid TMI stickers.


One that makes me mad is the one where one sister is a tranny. She is the more crippled one and uses her more normal conjoined sister as her full-time carer. Thankfully, I haven't found anything that says she takes T. But what if only one conjoined twin was trans? Would it be fair to her sister to deal with the bodily effects of T too?


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## grimacefetishist (Jan 29, 2022)

Something that fascinates me is the concept of very rare but incredibly insignificant diseases. 

Idk if it actually happens irl, but it woggled into my brain after reading about a supposedly super rare form of eczema. It only effects a small patch of skin and doesn't tend to have severe issues. It's just an incredibly rare inconvenience. Idk shit about eczema though so I could be remembering the story all wrong, but I still think the general concept is interesting.


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## Sparkling Yuzu (Jan 30, 2022)

grimacefetishist said:


> Something that fascinates me is the concept of very rare but incredibly insignificant diseases.
> 
> Idk if it actually happens irl, but it woggled into my brain after reading about a supposedly super rare form of eczema. It only effects a small patch of skin and doesn't tend to have severe issues. It's just an incredibly rare inconvenience. Idk shit about eczema though so I could be remembering the story all wrong, but I still think the general concept is interesting.


No, that's definitely a thing. There are known genetic mutations that only usually cause mild, vague symptoms. They often have disorder names but geneticists debate whether it should be considered a disorder or a natural human variation. An example would be Adenosine monophosphate deaminase deficiency aka myoadenylate deaminase deficiency. Most people have no symptoms at all, if they do it's usually being more tired and sore than normal after exercise. Meanwhile, other deficiencies related to adenosine can be devastating and cause Bubble Boy Disease and more. 


> However, the finding of homozygous mutations among asymptomatic individuals have suggested to some (e.g., Verzijl et al., 1998) that *AMPD1 deficiency may be a harmless entity* (summary by Castro-Gago et al., 2011).
> Genetta et al. (2001) *stated that AMPD1 deficiency is the most prevalent genetic disease in humans*, the number of people heterozygous approaching 10% of Caucasians and individuals of African descent (Sabina et al., 1989). A small percentage of homozygous-deficient individuals, approximately 1.8% of the population, display symptoms of chronic fatigue and lost productivity as well as a predisposition to stress-related ailments, including heart disease and stroke, according to Genetta et al. (2001).





			https://www.omim.org/entry/615511
		









						OMIM Entry - # 615511 - MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICI…
					

archived 30 Jan 2022 06:28:21 UTC




					archive.ph


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## MysticMisty (Jan 31, 2022)

Coffee Druid said:


> I remember learning about siamese twins as a kid. I couldn't imagine being attached to my sister when we fought or bickered all the time growing up. Now as an adult it raises so many existential questions about personhood. Obviously if the siblings have separate brain functions and personalities and everything I can see that. But it makes me wonder how they'd go about getting a state issued ID, or apply for a job, have a partner, etc. As two attached people. I have no desire to gawk at them, it just makes me wonder a lot of logistical things.


There's a movie about exactly that called Stuck on You. It's a comedy so there's a lot of silly shit, but it does explore the awkwardness of what it'd be like to be conjoined.


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## GenociderSyo (Feb 5, 2022)




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## Cats (Feb 5, 2022)

I have Wiggly Chipmunk Syndrome


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## cuddle striker (Feb 6, 2022)

I follow a lot of neglected disease and infectious illness, as well as structurally-damaging. Less so the rarities and more the oddities. I'll try to post some now and then.
At risk of telling you where I've volunteered, I bring you disease that is only rare if you don't live there.


YAWS, BEJEL


> Yaws is a chronic skin infection characterized by lumps of various size and ulcers. It is caused by the bacterium Treponema pallidum-  the same group of bacteria that causes syphilis.
> 
> Yaws primarily affects children aged under 15 years who live in poor communities in warm, humid and tropical forested areas of Africa, Asia, Latin America and the Pacific islands. The majority of affected populations live rural areas, far from health services.
> 
> Although there are over 80 000 cases of yaws each year, experts believe the disease can be controlled and ultimately eradicated for several reasons. It is also easy to treat with readily available drugs and has already been eliminated in some countries, including India. The remaining pockets of yaws infection, although usually in remote places, means further spread is less likely with proper surveillance and control measures.



It was believed that malnutrition was a primary factor in yaws, but it's now known that infection combined with lack of access to clean water is the reason it can become severe. Many people live with minor infection and do not get secondary bacterial growth, which is the primary horror of the disease.



Yaws that is kept clean- easier to treat and cure.
MsF is working in Congo with this right now. Previously they worked in rural India too. In the middle east and Mediterranean it's known as bejel- it is the same disease process and vector. It has been found in most tropical, old-world nations, and eliminated in many. Treatment is simple, but you've got to get it to the people who need it.



			https://msf.hk/en/content/treating-yaws-aka-pygmy-population-republic-congo
		


Yaws in earlier eras, and/or without sanitation access that causes severe and irreparable damage


Spoiler




Damage to bone structure. A historical case from the Lancet.

Bejel.


Advanced damage- she likely was infected as a child.


It has been found in wildlife.




info from WHO 



			https://www.who.int/news-room/fact-sheets/detail/yaws


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## GenociderSyo (Feb 6, 2022)

Yaws was one of the things you would dare people to google in the days of MIRC and shock sites.

It is good to see that it is being treated better now.


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## Vampyroteuthis infernalis (Feb 20, 2022)

So this isn't exactly the purpose of the thread, since it's just for my own personal curiosity, but I would appreciate you guys helping me crowdsource an armchair diagnosis for my creepy childhood friend. 
(For context, I knew her age 8-14ish but saw her around until high school graduation.)



Spoiler: Long background



She was pretty short, not dwarfism-levels but I think even fully grown she didn't exceed 5ft. She had a lot of "weird" autistic-like habits, like constantly clearing her throat obnoxiously loudly and chewing/picking her nails down to almost nonexistent stubs. She was remarkably unintelligent and gullible, and (at least in elementary and middle school) was exclusively in the blended classes where special ed students and a couple of aides were in with the normal kids (the other people in this program ranged from mostly normal autistic kids, to nonverbal autistics who had accidents in the middle of class, to kids with CP who were probably normal intelligence but needed physical help). Along with this, she was extremely boy-obsessed but focused mainly on whatever the Disney Channel celebrity of the day was, and she truly honestly believed she had a chance of a romantic relationship or even marriage well past the age where this was appropriate. She was very sexual (I found her twitter from age 12-13ish that was full of celebrity kink roleplay) and tried to solicit kinky photos from myself and another mutual friend when we were in 8th grade.



According to my parents and mutual friends, her only diagnosis was ADD, but we all got the impression there was more than that going on. She had two siblings (despite her family being Catholic), both female. Her older sister was normal afaik (she didn't want to hang out with kids, understandably). Her younger sister seemed intellectually normal, but had a bit of a speech impediment, and really small eyes that needed multiple surgeries over the time I knew her. 

My guess would be Turner syndrome, except for two things: she had very large breasts, even in elementary school, and she did have a period. Other than that she fits the phenotype almost exactly.

Seriously, that photo looks almost exactly like her. 

Again, this is just from personal curiosity. I no longer know her or her family and have no intent on changing that. It's always been something I wondered about and just never had answers for.


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## NerdShamer (Feb 20, 2022)

Vampyroteuthis infernalis said:


> So this isn't exactly the purpose of the thread, since it's just for my own personal curiosity, but I would appreciate you guys helping me crowdsource an armchair diagnosis for my creepy childhood friend.
> (For context, I knew her age 8-14ish but saw her around until high school graduation.)
> 
> 
> ...


I wanted to say it's something else, considering how the only mental retardation that comes with Turner's Syndrome is an lack of spatial reasoning and an ineptitude with mathematics. But it's kind of hard to pin it down to much of anything without her freaking out over something mundane. As it is, this sounds like an weird case of OCD and her losing the genetic lottery.


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## GenociderSyo (Feb 20, 2022)

Vampyroteuthis infernalis said:


> Again, this is just from personal curiosity. I no longer know her or her family and have no intent on changing that. It's always been something I wondered about and just never had answers for.


With the breasts and menstruation she probably was not Turner's syndrome. 

BTW if anyone has any requests for ones for me to add just let me know.


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## Vampyroteuthis infernalis (Feb 20, 2022)

NerdShamer said:


> But it's kind of hard to pin it down to much of anything without her freaking out over something mundane. As it is, this sounds like an weird case of OCD and her losing the genetic lottery.


She did actually have a huge public freakout once. She posted the link to a charity event, I commented something along the lines of "hey this charity actually is known to be shady and not support the people it claims to support, maybe don't recommend people support it?" Her first reaction was flat-out denial, so I posted a couple of links to back me up. She kept up the denial, saying I was wrong, the research was wrong, (charity) is wonderful and so good and has never done anything bad, I'm a bully for saying she was wrong, etc. I stopped engaging, she continued her weird defense, I eventually got tired of her freak-out and told her to just fucking drop it. She then tried to get our teacher involved and get me in trouble with the school for bullying (our teacher humored her and threatened me with expulsion, the administration laughed at it). She'd also freak out, get legitimately angry/upset, and go into deep denial if you so much as hinted that she was a child/teenager and did not actually have a real chance of marrying Justin Bieber/Harry Styles/whoever. 



GenociderSyo said:


> With the breasts and menstruation she probably was not Turner's syndrome.


Yeah, that's why I said it would've been my guess other than that. Are there disorders with a similar phenotype but not affecting sex characteristics? Or is she most likely just a garden-variety exceptional individual who looks really unfortunate?


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## GenociderSyo (Feb 20, 2022)

Vampyroteuthis infernalis said:


> Yeah, that's why I said it would've been my guess other than that. Are there disorders with a similar phenotype but not affecting sex characteristics? Or is she most likely just a garden-variety exceptional individual who looks really unfortunate?


I personally cannot think of any other disorder that would fit her, but there are so many disorders that exist in the world. It is a high chance though she was just really unfortunate in the rolls of genetics.


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## NerdShamer (Feb 20, 2022)

Yeah, @Vampyroteuthis infernalis that sounds pretty close to being autistic. But as for what's physically wrong with her; well, it could range from eating the same type of junk food to her mom drinking while she was pregnant.

Of course, it could also be comorbid with something else. Just not Prader-Willis because that is an completely different can of worms that involves_ an lot_ of food.


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## Sparklepants (Feb 20, 2022)

Vampyroteuthis infernalis said:


> So this isn't exactly the purpose of the thread, since it's just for my own personal curiosity, but I would appreciate you guys helping me crowdsource an armchair diagnosis for my creepy childhood friend.
> (For context, I knew her age 8-14ish but saw her around until high school graduation.)
> 
> 
> ...


Fragile X maybe? https://fragilex.org/fxs/uniqueness-females-fragile-x-syndrome/


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## Vampyroteuthis infernalis (Feb 20, 2022)

NerdShamer said:


> Yeah, @Vampyroteuthis infernalis that sounds pretty close to being autistic. But as for what's physically wrong with her; well, it could range from eating the same type of junk food to her mom drinking while she was pregnant.
> 
> Of course, it could also be comorbid with something else. Just not Prader-Willis because that is an completely different can of worms that involves_ an lot_ of food.


I won't PL here but I will say I haven't met anyone autistic who is quite similar to her. Plus she's just physically very odd. You know how your brain can subconsciously sort of register if something is "off" with a face? She just hits some sort of signal. 

Looking off of this, here's what I personally see physically:
* Round face
* Widely spaced eyes
* Smooth philtrum
* Smooth cupid's bow
* Stumpy hands (not a medical term)
* Sandal gap (gap between big toe and others)
* Downturned mouth corners
Her younger sister (the one with medically tiny eyes) also has those facial features, the older sister and mom look normal. 

I have some old photos, using those as reference


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## Boson (Feb 21, 2022)

Vampyroteuthis infernalis said:


> I won't PL here but I will say I haven't met anyone autistic who is quite similar to her. Plus she's just physically very odd. You know how your brain can subconsciously sort of register if something is "off" with a face? She just hits some sort of signal.
> 
> Looking off of this, here's what I personally see physically:
> * Round face
> ...


Sounds a bit like FAS (fetal alcohol syndrome).


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## NerdShamer (Feb 21, 2022)

Vampyroteuthis infernalis said:


> I won't PL here but I will say I haven't met anyone autistic who is quite similar to her. Plus she's just physically very odd. You know how your brain can subconsciously sort of register if something is "off" with a face? She just hits some sort of signal.
> 
> Looking off of this, here's what I personally see physically:
> * Round face
> ...


Sounds pretty close to Down's and FAS.


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## Vampyroteuthis infernalis (Feb 21, 2022)

Boson said:


> Sounds a bit like FAS (fetal alcohol syndrome).





NerdShamer said:


> Sounds pretty close to Down's and FAS.


Honestly, I would not be surprised if it was FAS. It's more likely than some rare genetic disease, and the mom does kind of seem like the type to be a functional alcoholic.  
Mystery solved I guess! Thanks Kiwis.


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## GenociderSyo (Feb 28, 2022)




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## GenociderSyo (May 12, 2022)

*Batten Disease
(3:100,000 births;  UNLESS of Scandinavian/Northern European Descent they are 1:25,000)*​Batten Disease is a term used for about 13 disorders of certain genes that leads to dementia and neurodegeneration in children and adolescents. Though this name used to only be used for the juvenile onset, it has now been used to categorize this type of genetic disorder across the life-span. Children with the infantile or late-infantile forms usually show symptoms earlier than age 1 year, though some forms are before age 5 and some even by age 15. The most common symptoms is vision loss followed by seizures leading to loss of skills and dementia. The dementia itself leads to mental health issues in the children which include personality changes and anxiety. They soon are blind, unable to communicate, bedridden and lose all cognitive functions. The life expectancy is usually death by early childhood for those with infantile/late-infantile form though those with childhood onset may live to their teens or 30s. Adult onset development of the disorder tends to be milder and does not effect life expectancy.

Only one type has any treatment which is an enzyme replacement therapy for CLN2 disease which can slow or stop progression of symptoms. Seizures can sometimes be reduced or controlled with anti-seizure drugs in forms that do not include intractable epilepsy.  Physical and occupational therapy may help those with the disease retain function as long as possible. 

The known types of the disorder include:



*CLN1 disease, infantile onset*
Symptoms are seen before age 1 and progress rapidly.
Developmental skills (standing, walking, and talking) are either are not achieved or are gradually lost.
Seizures by age 2 and eventually become blind and may require tube-feeding.
Majority of children by age 3 become completely dependent on their caregivers.
Most affected children die in early to mid-childhood.

*CLN1 disease, juvenile onset*
Symptoms are seen by age 5 or 6
Same symptoms and progression as infantile, but slower.
Most affected children die by early to mid-childhood.

*CLN2 disease, late-infantile onset*
Developmental delay begins around the end of age 2.
Seizures and gradual loss of the ability to walk and speak and will require feeding-tube at some point.
By age 4-5, constant myoclonic jerks.
By age 6 most children are completely dependent on their caregivers
Most children will die between the ages of 6–12 years.

*CLN2 disease, later-onset*
Symptoms begin by age 6 or 7.
Ataxia (loss of coordination) may be initial symptom.
Same symptoms as Late-Infantile, but with disease progression.
May live into teenage years.

*CLN3 disease, juvenile onset (ages 4-7)*
Rapidly progressive vision loss begins between ages 4 and 7.
Learning and behavior problems, dementia and seizures around age 10.
Parkinsonism begins by teenage years with speech and language issues.
Most die between the ages of 15 and 30.

*CLN4 disease, adult onset*
Begins in early adulthood (ormally around age 30.
Causes problems with movement and early dementia with slow progression.
Does NOT cause blindness, while other forms do.
Age of death is variable, including normal life expectancy.

*CLN5 disease, variant late-infantile onset*
Loss of skills and development of behavior problems during toddlerhood. 
Seizures and myoclonic jerks between ages 6 and 13. 
Vision deterioration and is eventual blindness
Learning disabilities and problems with concentration and memory. 
Death by late childhood or teenage years.

*CLN6, variant late-infantile onset*
Symptoms vary among children, but typically start after the first few years of life.
Developmental delay, changes in behavior, and seizures. 
Loss of skills for walking, playing, and speech. 
Development of myoclonic jerks, problems sleeping, and vision loss. 
Death by late childhood or teenage years.

*CLN6, adult onset*
Symptoms occur in early adulthood.
Epilepsy, inability to control muscles in the arms and legs, and slow but progressive cognitive decline.

*CLN7, variant late-infantile onset*
Developmental delays begin after a few years of what seems to be a normally-developing child. 
Epilepsy between the ages of 3 and 7, along with problems sleeping and myoclonic jerks.  
Loss of the ability to walk, play, and speak.
Rapid advancement of symptoms seen between the ages of 9 and 11. 
Death by late childhood or teenage years.

*CLN8 disease with Epilepsy with Progressive Mental Retardation (EPMR)*
Symptoms begins between ages 5 and 10.
This includes seizures, cognitive decline, and behavioral changes.  Loss of speech occurs in some individuals.
Seizures become very intermittent after adolescence.  Loss of speech occurs in some individuals. 
Individuals can live into adulthood. 

*CLN8 disease, late-variant onset*
Symptoms begin between ages 2 and 7.
This includes loss of vision, cognitive problems, unsteadiness, myoclonic jerks, and behavioral changes. 
Treatment-resistant epilepsy and a marked loss of cognitive skills by age 10. 
Loss of ability to walk or stand unassisted. 
Uncertain life expectancy with some children living to their early 20s.

*CLN10 disease (Congenital Form)*
Seizures may occur before birth and after birth seizures may not respond to treatment.
Problems with breathing that can progress to respiratory failure.
Obstructive sleep apnea.
Possible Microcephaly.
Death shortly after birth or within the first weeks of life.

*CLN10 disease (Late-Infantile Form)*
Symptoms begin soon after birth in most cases with a later onset and slower disease progression.
Possible microcephaly.
Seizures and progressive problems with vision, balance, and intellectual skills.
Ataxia and Spasticity.
Death in early childhood.









































Resources:
Mila's Miracle
Cure Batten
Beyond Batten
Batten Disease Support and Research Association
Fore Batten


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## Everything Beagle (May 13, 2022)

Years ago, I saw a group of girls hanging out on a corner, and one of the girls had her eyes on the sides of her head like a horse. Her head was kind of narrow horizontally. The other girls were treating her like, well, one of the girls, including her in their games etc. She didn't seem to be mentally challenged, as far as I could tell.

I've always wondered what was up with that girl.


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## Colress (May 13, 2022)

Syo, I always see you posting about stuff like this in the tard baby thread, and I'm glad you have a repository for it here now. This kind of stuff is absolutely fascinating and makes me want to write some stuff for this thread regarding infectious diseases that are obscure or almost wiped out.

Also, it's very amusing to imagine a serial killer giving long winded explainations on genetic disorders.


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## GenociderSyo (May 13, 2022)

Everything Beagle said:


> I've always wondered what was up with that girl.


Could have just been premature fusion of the plates causing skull oddities. It is hard to tell.


Colress said:


> Syo, I always see you posting about stuff like this in the tard baby thread, and I'm glad you have a repository for it here now. This kind of stuff is absolutely fascinating and makes me want to write some stuff for this thread regarding infectious diseases that are obscure or almost wiped out.
> 
> Also, it's very amusing to imagine a serial killer giving long winded explainations on genetic disorders.


Should add it if your interested. And yea the irony is fun when posting about psychological stuff as well.


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## GenociderSyo (Aug 25, 2022)

*Centronuclear Myopathy
(1 in 50,000 to 100,000 births)*​
X-Linked Myotubular Myopathy (Myotubularin)- MTM1​
Most common and severe form making up 90 to 95% of diagnosises.​
Due to being x-linked the severely symptomatic form of the disorder is seen in men though very rarely female carriers may show mild symptoms.​


Autosomal Dominant Centronuclear Myopathy (Dynamin 2) -DNM2​
Those with DNM2 have 50% chance of passing it down to each child​

Autosomal Recessive Centronuclear Myopathy (Amphiphysin 2) - BIN1​
Parents of a child with _BIN1_-associated CNM have a 25% change of having another child with the same condition.​

Autosomal Dominant or Recessive Centronuclear Myopathy (Ryanodine Receptor 1) - RYR1​
This leaders to susceptability for malignant hyperthermia, which is a life-threatening reaction to certain anesthesia that causes a extremely high temperature and other symptoms.​

Autosomal Recessive Titin Disorders (Titin) - TTN​
Muscle weakness and heart problems due to weakness in the heart itself.​
The most comment issue is dilated cardiomyopathy.​


Autosomal Recessive Centronuclear Myopathy with striated muscle preferentially expressed protein kinase) - SPEG​
This specifically effects the skeletal muscle system.​




*Classic Severe Form:*

Extreme muscle weakness and hypotonia is seen from birth which can cause respiratory distress and feeding difficulties. Some babies at their severest will have no ability to suck, swallow or breath and will require ventilation from infancy which has its own dangers including recurrent infections, inadequate shallow breathing and hypoxia. Some children will only last a few months or a year, but some can survive longer requiring 24 hour ventilator support, feeding support and wheelchairs. The least severe may be able to be fully independent of the ventilator or be capable of taking breaks from it except for during sleep.

Cognitive functioning is not effected with this illness unless it is secondary to an extreme hypoxic event. Most children will be non-ambulatory since there is poor muscle development. Sometimes a freeform halo will be used so that a child can still looking around and be upright even with lack of full muscle control in their neck. The disease is not believed to be progressive, but the development of the muscles is so poor to begin with that it causes issues regardless. There has also been shown that children with this disorder are more easily fatigued then their peers.

There are some distinctive features to these children including facial features such as a high forehead, mid-face hypoplasia, weak facial muscles and a long face with a disproportionately long and harrow head. They also tend to unnaturally tall in comparison to their peers and have macrocephally. Some other characteristics may include a narrow high arched palate, severe misalignment of teeth, inability to fully control eye movements, drooping of upper eyelids, nearsightedness, and undescended testes. As they grow older their fingers and toes my appear abnormally long and contractures will occur. They also will deal with possible fractures of long bones, hip dysplasia and scoliosis. Some will also deal with peliosis hepatitis, which can cause the liver to hemorrhage.

*Mild/Moderate Form (about 10 to 5% of all cases):*

Those with the moderate form will follow the course of the severe form only they will have longer time before being ventilated and possibly longer periods before they become fully ventilator dependent. They also may obtain some motor milestones such as using a gait trainer or walker and not requiring reliance fully on a wheelchair. Those with the mild form may only require ventilator support as an infant and most will achieve the ability to walk unaided. They tend to not have the common facial features of those with the severest form, but more commonly are effected by paralysis of the eye muscles. Both versions can lead to sleep apnea and nocturnal hypoventiliation. Illnesses also can cause issues with breathing and these all may lead to ventilator support temporarily or only during sleep.

*Treatment*

At the moment treatment is done via occupational and physical therapy to help with any possible muscle development and to stop contractures. There also is communication support to help with communication while ventilator dependent. There are gene therapies being researched but they are not approved as an alternative therapy at this time.


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## GenociderSyo (Aug 30, 2022)

Wasn't able to add this in before site went down but here is the guide on Centronuclear Myopathy.


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## Sparkling Yuzu (Aug 30, 2022)

GenociderSyo said:


> Wasn't able to add this in before site went down but here is the guide on Centronuclear Myopathy.


Is the tic tac shaped head a known abnormality in this disease? There are so many weird forms of genetic myopathies yet myopathies can also be some of the most common genetic conditions, like HCM being the most common genetic heart condition.


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## GenociderSyo (Aug 30, 2022)

Sparkling Yuzu said:


> Is the tic tac shaped head a known abnormality in this disease? There are so many weird forms of genetic myopathies yet myopathies can also be some of the most common genetic conditions, like HCM being the most common genetic heart condition.


Yep it was in all except one version.


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## GenociderSyo (Sep 7, 2022)




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## Reddit Refugee (Sep 29, 2022)

GenociderSyo said:


> View attachment 3685507


Found the thread. She had glaucoma as a baby and there's some impressive bloodshot eye pictures in there.
Seems like her appearance isn't abnormal as the pupillary defects caused in Axenfeld Rieger anomaly won't be visible in photos of such deep dark eyes.
Recent pic of the kid


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## Jewthulhu (Sep 30, 2022)

Before the farms went down, and all the instability kicked off, I was torturing chat with pictures of cyclopia.


Spoiler: Disturbing




The tube-shaped appendage above the eye is the undeveloped nose (proboscis) , while the two lumps below the eye on the second and third ones are ears.


Cyclopia is non-viable, and are usually stillborn (if not, they'll likely suffocate shortly after birth, as the failure of nasal development seems to be a common feature).

Developmental neurobiology is my shit, so allow me to indulge myself here:

Cyclopia is an extreme form of holoprosencephaly, which is a condition where the prosencephalon (embryonic forebrain) fails to divide into left and right hemispheres. As eye development is tied to the prosencephalon, in extreme cases of holoprosencephaly the optic vesicles (eye progenitor regions) will fail to properly divide as well, resulting in one singular eye. The nose naturally forms in the region above the eye, and my guess is a similar failure in left-right patterning and the physical obstruction to its migration causes it to remain undeveloped on the forehead. The ears also normally develop below the face, and migrate into their proper position with the development of the mandible. I'm again not too sure what causes the failure of the mandible to develop in some, but from some developmental schematics the first pharyngeal arch (the structure the ears/mandible develop from) is located close to the prosencephalon and optic vesicles, so I wonder if there's a similar failure in left-right patterning that results in the failure of the mandible to form.

There's some speculation that it's caused by a mutant of the Sonic HedgeHog gene (yes, really), largely due to the most common teratogen associated with the condition, California Corn Lily, being an inhibitor of the hedgehog genes. I suspect that's not the whole story, at least genetically, as SHH has an incredibly large role in neurological and limb development in general.


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## NerdShamer (Oct 3, 2022)

Is it actually possible to be born with 18 chromosomes? I'm guessing that this guy wasn't paying an lot of attention when he was diagnosed because the only thing that I could find was Edward's Syndrome and some variation of the 18th pair of chromosomes being deformed


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## Jewthulhu (Oct 3, 2022)

NerdShamer said:


> Is it actually possible to be born with 18 chromosomes? I'm guessing that this guy wasn't paying an lot of attention when he was diagnosed because the only thing that I could find was Edward's Syndrome and some variation of the 18th pair of chromosomes being deformed


Even being generous and assuming he means 18 complete pairs and 5 incomplete, the answer is no. Monosomies are lethal with the exception of turner syndrome. Even 5 partial monosomies would be astronically rare and would likely be missing too much genetic data to be viable.


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## NerdShamer (Oct 3, 2022)

Jewthulhu said:


> Even being generous and assuming he means 18 complete pairs and 5 incomplete, the answer is no. Monosomies are lethal with the exception of turner syndrome. Even 5 partial monosomies would be astronically rare and would likely be missing too much genetic data to be viable.


Personally, I'm assuming that it's Edward's syndrome on account of how common it is  and he isn't playing with an full deck of cards (but it's Wikia, so this is normal)


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## Jewthulhu (Oct 3, 2022)

NerdShamer said:


> Personally, I'm assuming that it's Edward's syndrome on account of how common it is  and he isn't playing with an full deck of cards (but it's Wikia, so this is normal)


From what I'm seeing most people with Edward's Syndrome don't live that long. Assuming he has a chromosomal disorder it could be 18p-. Differential diagnosis is being a tard who's also ESL or simply lying on the internet.


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## GenociderSyo (Oct 3, 2022)

NerdShamer said:


> Is it actually possible to be born with 18 chromosomes? I'm guessing that this guy wasn't paying an lot of attention when he was diagnosed because the only thing that I could find was Edward's Syndrome and some variation of the 18th pair of chromosomes being deformed


As others have said that would be non-viable. BTW thers a really good site to learn about chromosomal deletions, etc. and the disorder and issues they cause.
https://rarechromo.org/disorder-guides/


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## GenociderSyo (Oct 7, 2022)

Working on a new post for here and ran across this little girl with no arms that can eat with chopsticks better then I can.... All this down time and stuff a nice feel good story is good to see:





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## PipTheAlchemist (Oct 8, 2022)

Stop making threads about me, GenociderSyo 
It's weird, and I don't like it


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## GenociderSyo (Oct 13, 2022)

This is a four year old boy:




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## Sparkling Yuzu (Oct 13, 2022)

GenociderSyo said:


> This is a four year old boy:
> View attachment 3736078


Aww, he seems like such a sweet kid. So crazy to see such a childish body and mannerisms like flapping his hands with such an old man's face. He's still adorable though. I hope they at least have a diagnosis and treatments all paid for for him now.


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## GenociderSyo (Nov 7, 2022)

Full Body Lymphodema:


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## GenociderSyo (Dec 19, 2022)

*Krabbe Leukodystophy/Disease
(Less Than 5,000 Cases in US)


*​Krabbe’s Leukodystrophy is an autosomal recessive disorder that causes degeneration of the myelin sheath in the brain due to an inability to metabolise certain enzyomes. The myelin sheath allows the brain to send messages to and from the body. This leads to progressive neurological dysfunction such as intellectual disability, paralysis, blindness, deafness and paralysis of certain facial muscles (pseudobulbar palsy). There are tests that can assess an infant for this disorder, but due to its rarity it is not done in newborn screenings. It can also be assessed during an amniocintesis, but as before it is not done due to rarity. There is also a treatment to delay onset of symptoms, hematopoietic stem cell transplant (HSCT), but it must be done before symptoms occur and lack of newborn screenings means that most diagnosed are past the point this treatment can be administered. Organizations are fighting for testing to occur as part of the normal screening procedures so that parents can make an informed choice if done prenatal or can obtain some form of delaying treatment if done postnatal.


Krabbe Disease Forms
Infantile Krabbe Disease - _Onset of symptoms:  0 -12 months_
Most severe and most common form affecting ~85-90% of all cases.
Babies may appear normal for the first few months of life and then begin to develop noticeable symptoms.
Symptoms appear between 0-13 months of age.
Irritability; above and beyond colic
Sensitivity to sound; easily startles
Severe acid reflux; appears to not keep a majority of feedings down
Vomiting
Unexplained fevers
Significant decrease in daily consumption of formula\breast milk
Loss of milestones; no longer tracks objects or giggles
Partial Unconsciousness
Tonic and/or Clonic Seizures
Decerebrate rigidity
Legs are sometimes rigidly extended at the hip and knee; the arms may be rotated at the shoulder and extended at the elbow; and the ankles, toes and fingers may be flexed

Cortical blindness and/or deafness
Peripheral neuropathy
Dysphagia


Late Infantile Krabbe Disease _- Onset of symptoms: 13-36 months_
Vision disturbances
Slurred speech
Abnormal gait
Loss of previously achieved milestones
Impaired control of voluntary movements
Progressive rigidity of muscles in the legs
Progressive vision loss
Polyneuropathy

Juvenile and Adult Onset Krabbe Disease _- Onset of symptoms: 4 years to adulthood_
Extremely Rare
Variable rates of progression
Loss of manual dexterity and fine-motor skills; unable to button a shirt
Peripheral neuropathy; complaints about tingling or burning sensation in hands or feet
Lower limb weakness; appears to trip over their feet or fall more
Deceased mental acuity; trouble remembering people’s names or simple words


Treatment prior to symptoms with HSCT can cause progression of the disease to never occur in children who were not symptomatic. They do have to deal with the life issues that come from having this type of transplant though. If used on symptomatic children the results are not good and lead to organ damage, permanent motor impairment, unresolvable infections, and earlier death.










































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Resources:
https://krabbeconnect.org/
https://www.krabbes.org/
https://www.huntershope.org/


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## GenociderSyo (Saturday at 5:01 PM)

*Cornelia de Lange Syndrome
(About 1 in 10,000 live births)*​Cornelia de Lange Syndrome (CdLS) is a congenital disorder where all people with it share distinctive  facial features. This includes small short heads with prominent groves between the upper lip and nose, as well as depressed nasal bridge with upturned nostrils and a small chin. The most prominent feature though is that they all have well defined eyebrows that grow together across the nose and unusually long eyelashes. Other features are thin down-turned lips, low set ears, and low hairline. They also have delays in physical development both during development in the womb and after birth and mild to severe intellectual disability and psychomotor development. There are also malformations of the hands and arms, most commonly they are missing forearm bones and fingers.  Other issues may include feeding (projectile vomiting and regurgitation) and breathing difficulties with increased rate of respiratory illnesses, a low-pitched “growling” cry, heart defects, delayed skeletal maturation, hearing loss and/or seizures.  They also may have episodes of self harm, screaming and biting. The upper limb abnormalities if occurring on both arms may be completely different anomalies on each side. Affected children may have decreased facial expression based on emotion, but they appear to respond positively to certain stimuli especially fast moving stimuli. There is a chance that children will have hernias including a fatal if not treatment immediately version that includes an issue where the organs do not separate from the lungs during development.

The differences in growth is such that there are specific growth charts used to assess CdLS children because otherwise most would be diagnosed as failure to thrive via the normal growth charts. There are also separate milestone charts as well.
























































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*Resources:
https://www.cdlsusa.org/*


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