Disorders/Diseases/Oddities Thread

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ZsaZsaBinks said:
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.
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You can't just mention this without linking the Hartley Hooligans thread (the girls in the second photo for those unaware) which is both fascinating and horrifying.
 
GenociderSyo said:
Abby of conjoined twins Abby and Brittany got married back in 2021 but hid it until now. She married a man who was divorced and already had a child. She has commented that one day she plans to be a mother.
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Got to wonder how any of that works. He's married to Abbey but the sister is involved with every aspect of the relationship. Does he like the sister? I mean he's going to be fucking both of them. Does the sister like him? It boggles the mind.
 
athousandrustynails said:
Got to wonder how any of that works. He's married to Abbey but the sister is involved with every aspect of the relationship. Does he like the sister? I mean he's going to be fucking both of them. Does the sister like him? It boggles the mind.
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Could it just be legal nonsense? They took the driving test twice and each have their own license; legally they're 2 different women and he can only, legally, marry one woman at a time. I figure it's literally a sister wife situation.

As for their sex life, I'm not gonna speculate besides to say I'm guessing they worked that out during puberty like the rest of us.
 
Bent Bone Dysplasia
(About 5 people world-wide are diagnosed with this)
​

Bent Bone Dysplasia is an extremely rare usually fatal form of dwarfism due to a spontaneous gene malformation. This disorder causes extremely thin and brittle skull bones (like a baby's soft spot but the entire skull) as well as overall weak bones; early fusion of skull bones, early fusion of the pelvis, tail bone and clavicles, bell shaped chest and bent long bones. The face will have low set ears, wide spaced eyes and a flat midface with premature teeth and a small lower jaw. Intelligence is not expected to be effected.

This disorder causes increased pressure due to the premature fusing of the skull case leading towards bulging eyes due to swelling and possible blindness due to detachment or damage to the optic nerve. Ears may be malformed and lead to conductive hearing loss. They also have excessive gums and may be born with a full set of baby teeth already in or erupting shortly after birth. The nasal passages may be fully obstructed or narrowed resulting in breathing issues. Fingers and toes tend to be shortened and the hip sockets have an exaggerated arch, but the spine is often normal. There is also usually excessive body hair, issues with an enlarged spleen and/or liver and a heart issue known as atrial septal defect.

Babies with this disorder will have issues feeding and breathing due to mid-face issues. This also leads to sleep apnea as well. They may be unable to closer thier eyes due to the bulging appearance leading to physial scarring of the eyes.

Most with this disorder die in utero or shortly after birth. Due to this there is little or no information on neurodevelopmental and behavioral features of this disorder. It is important that the birth is done in a high risk hospital since the child will not be able to be born without c-section and respiratory support.

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Resources:
Family Blog
Daily Mail Article
 
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