Disorders/Diseases/Oddities Thread

[GenociderSyo]

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.

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

 

[GenociderSyo]

Amniotic Band Syndrome/Constriction Ring Syndrome
(1 in 1,200 to 15,000 live births)

Amniotic band syndrome is an encompassing term used to explain congenital abnormalities caused by the uterine bands constricting portions of the fetus. These anomalies are referred to as natural amputations. In rare cases fetal surgery will be performed to skip bands, but this is on a case by case basis and is quite rare to occur.

There are three ways that this is believed to occur at the moment:

• Intrinsic Theory
  • This is an anomaly of germ plasm and would occur early on in the pregnancy. There is a belief also that there is some sort of vascular disruption as well.
• Intrauterine Disruption
  • This states that there was a cascade of events involving amniotic rupture. This would be in the second trimester and it is believes that this rupture causes strands that can entangle the fetus.
• Intrauterine Trauma
  • In this case a hemorrhage leads to acrosyndactyly, or fusion of the distal part of the digit in the presence of a formed web space proximal to this fusion. This though only supports the issues in hands and feet though.

Now there are also three different patterns of deformity found in this syndrome:

• One or More Limbs Affected
  • Usually upper limbs are affected more then lower limbs.
  • One or more by be affected.
  • Fingers or toes missing the end portion
  • Webbing of fingers or toes.
  • Extra bands of tissue entangling fingers or toes.
• Limb Body Wall Complex
  • This is always lethal.
  • They have encephalocele where the brain protrudes out of the malformed skull.
  • Facial Clefts.
  • Protrusion of the internal organs outside the abdominal or chest wall.
  • Varying severity of limb deformities.
• Craniofacial Abnormalities with Brain Defects and Serious Malformation of Limbs
  • Cleft palate and/or lip.
  • Facial clefts.
  • Small underdeveloped eyes.
  • Narrowing of nasal passages.
  • Skull malformations.
  • Possible fusion of head to placenta.

Journal articles are attached for the two cases in the second row of pictures.

Resources:
https://amnioticbandsyndrome.com
http://child-amputee.net/

 

[ZsaZsaBinks]

Hermansky-Pudlak Syndrome is a genetic disorder characterized by oculocutaneous albinism, poor eyesight, easy bruising, prolonged bleeding, pulmonary fibrosis, inflammation of the large intestine, and kidney failure. It is autosomal recessive, which means that both copies of the gene must be mutated to cause the disorder. There are 11 types, but the most notable (and most severe) are HPS 1 and HPS 2. Hermansky-Pudlak Syndrome is most commonly seen in Puerto Ricans due to a founder effect on the island.

Online Mendelian Inheritance in Man (OMIM)

203300 - HERMANSKY-PUDLAK SYNDROME 1; HPS1 - ALBINISM WITH HEMORRHAGIC DIATHESIS AND PIGMENTED RETICULOENDOTHELIAL CELLS;; DELTA STORAGE POOL DISEASE

omim.org

Hermansky-Pudlak syndrome - About the Disease - Genetic and Rare Diseases Information Center

Find symptoms and other information about Hermansky-Pudlak syndrome.

rarediseases.info.nih.gov

https://www.hpsnetwork.org/

 

[Real Mayun]

greta needs her risperdal

 

[ZsaZsaBinks]

Ja’bari Gray is boy from Texas who was born missing most of his skin. During the first year of his life he needed skin grafts all over his body. It is unknown what his condition is as doctors haven’t seen it before.

An article about his case (Archive)

 

[NoReturn]

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.

Just going through the thread and wanted to point out that this is the inspiration for the book Awake by Gregory Poirier that got turned into a Netflix movie:

 

[GenociderSyo]

Just going through the thread and wanted to point out that this is the inspiration for the book Awake by Gregory Poirier that got turned into a Netflix movie.

This movies pretty interesting from a psychological point of view. Never knew it existed. Can't seem to track the novel down though.

 

[NoReturn]

This movies pretty interesting from a psychological point of view. Never knew it existed. Can't seem to track the novel down though.

I was wrong! It was Black Moon be Kenneth Calhoun, which has the same premise. So does Nod by Adrian Barnes and Sleep Donation by Karen Russell, which are two more I found whole looking for it but haven't read.
I remember the ending was not good.

 

[Urbicide]

I was wrong! It was Black Moon be Kenneth Calhoun, which has the same premise. So does Nod by Adrian Barnes and Sleep Donation by Karen Russell, which are two more I found whole looking for it but haven't read.
I remember the ending was not good.

There was also a video series done by a man actually suffering from this disease as well if I remember correctly. I believe he made it for his son as a way for him to understand the disease and who he was as a person after he's gone

Scare Theater made a video about it

https://www.youtube.com/watch?v=R_YFluy_Tp8

 

[Frank's_Fluids]

So I was taking a med class once upon a time and we had this book that was an illustrated book of diseases. To creep each other out we would see who could find the grossest/most disturbing photos ( I was traumatized once by a pic of someone infested with herpes from dick to ass). After a decade I still can't forget Harlequin-type ichthyosis. It's apparently a genetic mutation disorder inherited from parental carriers that involves essentially developing scales and affects 1 in 300,000. As an immature young person I just thought it looked like a demon baby, but now as an older wiser me is just damn sad this even happens. It is incurable, but on the upside, it used to be fatal, but now there seems to be a 50% chance of saving the baby, and symptoms lesson a bit with time, but it still is pretty miserable and lifespan is unknown currently.

 

[GenociderSyo]

Harlequin-type ichthyosis.

Good documentary on it here:

 

[Blue Whirlwind]

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.

Dude, that’s the coolest thing I’ve ever heard of. As a twin myself (don’t think that’s too much of a PL) I’ve obviously been down the conjoined twins rabbit hole before myself but somehow I missed this. They’ve literally got the psychic powers!!

aside: Just found this randomly while searching for something else, and would just like to say that I think you’re the best poster on the Farms

 

[GenociderSyo]

Proteus Syndrome
(About 100 to 200 Cases Ever Recorded)


​

Proteus Syndrome is an disproportionate, asymmetric overgrowth disorder caused by a mosaic variant in a gene called AKT1 which means that it manifests as certain limbs, digits, etc. growing larger then others. The most famous case people will have heard of is Joseph Merrick known as the Elephant Man. The criteria for diagnosis of the disorder has been refined and some older journal articles that stated they were about it now are known to be about other overgrowth disorders. The most common seen additional symptoms are progressive skeletal malformations, benign and malignant tumors, vascular malformations, cystic pulmonary disease and certain skin lesions. The overgrowth may cause abnormal blood clotting leading to deep vein thrombosis and pulmonary embolisms.

Overgrowth is not limited to just bones, muscular and venous systems, but their can be overgrowth seen in the brain at birth. Usually diagnosis happens between 6 and 18 months when the disproportionate overgrowth becomes obvious. The bony portion of the overgrowth can effect the entire skeletal system including portions of the skull and spine. The effects on joints can cause immobilization due to asymmetrical growth.

Overgrowth is not simply skeletal there can be fatty overgrowth as well which can effect all areas of the body, but mainly the torso and extremities. On the other hand there can be atrophy of areas as well further exaggerating the disproportionate effects. The skin is also effected where children may be born with a raised rough nevus type of birth mark. As they grow they may end up having the skin in certain areas grow lesions that cause grooves and furrows similar to how the brain looks. The capillaries , veins, and lymph vessels can also be affected.

As well as the organs which can be abnormal enlargements most common in the liver, spleen and kidneys. The muscles of the eyes can be effected causing strabismus and there is a preclivty for cystic lung disease. Tumor formations are also common and hte most common are ovarian, testicular and salivary gland cancers. Some of the less common symptoms include overgrowth of half of the brain causing intellectually disability and seizures.

There is an interesting case that came out of this disorder of Mandy Sellars whose legs were so effected they weighed over 100 lbs each. They thought that they could giver her a better semblance of life by amputating. Instead this caused her stump to continue to grow exponentially. These images will look photoshop but this is actually how large her legs are. Before the amputation she was able to walk short distances on crutches, but the prosthetics did not work and cannot be made anymore for the stump due to how fast it grows.

There are three general characteristics or features that must be present for doctors to consider a diagnosis of Proteus syndrome:

1. Mosaic distribution: this means that the areas of overgrowth are patchy and that only some body parts show signs of overgrowth while others are unaffected
2. Sporadic occurrence: this means that no one else in the affected person’s family has similar features of overgrowth
3. Progressive course: this means that the overgrowth has noticeably altered the appearance of the affected body parts over time or that new areas of overgrowth have appeared over time

The specific characteristics are grouped into three categories: A, B, and C. A diagnosis of Proteus syndrome requires all three general features to be present and either one feature from Category A, two features from Category B, or three features from Category C.

• Category A
  • Cerebriform connective tissue nevus (CCTN).
    • Very distinct type of skin overgrowth seen almost exclusively in people with Proteus syndrome presenting with skin growth having deep grooves and wrinkles.
• Category B
  • Linear epidermal nevus
    • Streaky skin pigmentation that is often brown and sometimes has a rough or velvety texture.
  • Asymmetric, disproportionate overgrowth of at least one of the following:
    • Growth of a body structure or structure that is different from the overall growth rate of the child and is not the same from structure to structure.
      • Limbs
      • Hyperostosis of the skull
      • Hyperostosis of the external auditory canal
      • Megaspondylodysplasia (i.e., abnormal growth of vertebrae)
      • Viscera: spleen/thymus
  • Specific tumors with onset before the second decade (either of the following):
    • Bilateral ovarian cystadenoma
      • Abnormal growth of ovarian tissue.
    • Parotid monomorphic adenoma
      • Abnormal growth of the parotid gland, one of the glands that makes saliva.
• Category C
  • Dysregulated adipose tissue (either of the following):
    • Abnormal growth and/or distribution of fat and includes benign (not cancerous) fatty tumors (often called “lipomas”) or a lack of fat under the skin.
      • Lipomatous overgrowth
      • Regional lipoatrophy
  • Vascular malformations (one of the following):
    • Differences in the blood vessels (capillaries and veins) or vessels of the immune system (the lymphatic vessels) are formed.
      • Capillary malformation
      • Venous malformation
      • Lymphatic malformation
• Bullous pulmonary degeneration
  • Lung Bullae
    • When the tiny air sacs that make up the lung form large, hollow areas that do not fully work.
• Facial phenotype (all of the following):
  • Dolichocephaly
  • Long face
  • Downslanting palpebral fissures and/or minor ptosis
  • Depressed nasal bridge
  • Wide or anteverted nares
  • Open mouth at rest

Resources:
Proteus Syndrome Foundation International
Proteus Syndrome

 

[The Cheese Aisle]

There was also a video series done by a man actually suffering from this disease as well if I remember correctly. I believe he made it for his son as a way for him to understand the disease and who he was as a person after he's gone

Scare Theater made a video about it

https://www.youtube.com/watch?v=R_YFluy_Tp8

Yeah, that’s Richard Siagian. The weird thing about him, though, is that he reports his symptoms showing up after taking a Cipro (an antibiotic) from his boss. I’m not suggesting antibiotics/Cipro can cause fatal insomnia, but I wonder if it had something to do with turning the gene for SFI on in his specific case. His YouTube channel where he documents his experience is still up, and by the end he just rambles. FFS and the other prion diseases have been a fear of mine for a while.

To bring some levity to the thread after that, here’s the Autosomal Dominant Compelling Helio-Ophthalmic Outburst (ACHOO) syndrome, more commonly known as the Photic Sneeze Reflex. It’s an inherited congenital condition that causes bursts of sneezes in response to stimuli, the most common being viewing changes in light intensity from dimmer to brighter (for example, after going from an indoor space into bright afternoon sunlight.) The mechanism behind this reflex is still unknown. A small survey found that the photic sneeze reflex is experienced by 97% caucasians and 67% females and may also be more common in those with a deviated septum, but the study had limitations such as a small sample size.

Spoiler: PL but not really since the photic sneeze reflex may be as common as 35% of the population

I very rarely lose a sneeze because if I feel one coming on that doesn’t want to happen, I just go look outside or at a lightbulb and BAM, sweet nose orgasm

 

[Oracular Slug]

There is an interesting case that came out of this disorder of Mandy Sellars whose legs were so effected they weighed over 100 lbs each. They thought that they could giver her a better semblance of life by amputating. Instead this caused her stump to continue to grow exponentially. These images will look photoshop but this is actually how large her legs are. Before the amputation she was able to walk short distances on crutches, but the prosthetics did not work and cannot be made anymore for the stump due to how fast it grows.

She ended up diagnosed with something else after genetic testing and is on medication that's reducing the size of her legs. I think the elephant man is suspected to have had something else too.

 

[GenociderSyo]

She ended up diagnosed with something else after genetic testing and is on medication that's reducing the size of her legs. I think the elephant man is suspected to have had something else too.

I found the info on it seems that they now distinguish between AKT gene (Proteus) and PIK Related Overgrowth Spectrum.

 

[ZsaZsaBinks]

• 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.

This disease is also known as Northern Epilepsy Syndrome. It is called this because it was most commonly seen in Finnish people. It has been known about in Finland for centuries and there is even a Finnish book about a boy with the syndrome.

Finns have a lot of genetic disorders due to being isolated for centuries. There is even a website which has information on the genetic disorders affecting the population.

 

[GenociderSyo]

Thrombocytopenia Absent Radius Syndrome - TAR Syndrome
(About 1:100,000 to 1:200,000 live births)


​

TAR syndrom is an autosomal recessive genetic disorder whose predominant feature is a lack of the radius in the arms. The radii absence is almost always bilaterally, meaning both arms are effected. They hands though are not affected at all though the figures may be a bit shorter. In some cases the ulna may be underdeveloped or absent, the humerus could be underdeveloped and/or the shoulder girdle may be underdeveloped or absent. In the most severe cases, the arms may be completely missing and the hands may be joined to the trunk by small, irregularly-shaped bone known as a phocomelia.

There also is the feature of blood issues as well which means that the bone marrow cells that create platelets do not work especially during the first few years of life. This means that their platelet levels tend to dive and peak frequently and cause severe bleeding episodes. This presents with bloody stools, vomiting blood, easy bruising and petechiae (reddish spots on skin). In severe cases there can be bleeding episodes after injury or intracranial hemorrhaging can occur. The intellectual disabilities related to this disorder usually are those who have a history of intracranial bleeding. Most individuals though with this disorder do not have any cognitive issues unless an additional syndrome is causing it. After the first 1 or 2 years the bleeding issues tend to normalize and by adult age they may almost be to normal platelet levels. Adults though may deal with unusually heavy or prolonged menstruation. There also is an effect to red blood cells causing anemia and they may have an issues with white blood cells where they have an excessive amount. This excess of white blood cells leads to enlarged live and spleen.

There can in some cases be lower limb issues as well such as knee caps that are not formed properly leading to dislocation of the patella. In rarer cases some may be born without any patella at all or have complete fusion of the knee bones. There may also be issues where the hips do not fit properly into the socket causing dislocation issues there as well. Other abnormalities can occur effecting how the long bones are rotated or issues with the feet and toes. Those with the most severe upper limb abnormalities are more likely to have the lower limb issues that can occur.

Some children may have an increase in the cells that case asthma and allergies and this mainly happens in children with this disorder who have cow's milk intolerance. The introduction to cow's milk will lead to bleeding episodes as well as gastrointestinal symptoms including nausea, vomiting, diarrhea, and failure to thrive.

About one third of affected infants also have congenital heart defects such as an abnormal opening dividing the upper chambers of the heart or a malformation known as tetralogy of Fallot. Tetralogy of Fallot is a combination of heart defects which includes abnormal narrowing of the opening between the pulmonary artery and the lower right chamber of the heart, an abnormal opening in the partition between the lower chambers of the heart and an enlargement of the right ventricle.

Some of the other physically abnormalities that may occur in TAR syndrome include they may exhibit short stature. They may also have an abnormally small jaw, cleft palate, hemangiomas or minor abnormalities of the spine and ribs. There may also be kidney defects including fused "horseshoe" kidneys, underdevelopment or improper functioning. The renal defects are still being studied to see if they are an issue with the disorder or just unrelated issues in the patients exhibiting it.

Resources:
TAR Syndrome Awareness
TAR Syndrome Awareness Facebook

 

[The Cunting Death]

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

I know, I know, necro post and all that. But:

one) interesting thread that deserves a bump.

two) It was Chronic Fatigue Syndrome I was looking for.

 

[ZsaZsaBinks]

Asparagine Synthetase Deficiency (ASNSD) is a neurometabolic disease caused by the lack of the enzyme asparagine synthetase. The lack of this enzyme caused progressive microcephaly, epilepsy, spastic quadriplegia, and cortical visual impairment. The gene which creates the asparagine synthetase enzyme is located on chromosome 7. A person with one mutated copy is unaffected, but if a person has both copies mutated then they are affected. The disorder is autosomal recessive, which means that two carriers have a 25% chance of having a child with the disease. The prognosis for ASNSD is poor, with most affected cases dying in childhood. ASNSD is rare, with only a handful of cases reported in medical literature.



OMIM