William's Syndrome

[Rob Lister]

If I had to pick a disability to be born with, it would be William's Syndrome.

[ed]

Williams syndrome (WS) is a genetic disorder that affects many parts of the body.[3] Facial features frequently include a broad forehead, short nose and full cheeks, an appearance that has been described as "elfin".[3][5] While mild to moderate intellectual disability with particular problems with visual spatial tasks such as drawing is typical, verbal skills are generally relatively unaffected.[3] Those affected often have an outgoing personality, interact readily with strangers, and appear happy.[3][5] Problems with teeth, heart problems (especially supravalvular aortic stenosis), and periods of high blood calcium are common.[2][3]

Williams syndrome is caused by a genetic abnormality, specifically a deletion of about 27 genes from the long arm of one of the two chromosome 7s.[3][5] Typically this occurs as a random event during the formation of the egg or sperm from which a person develops.[3] In a small number of cases, it is inherited from an affected parent in an autosomal dominant manner.[3] The different characteristic features have been linked to the loss of specific genes.[3] The diagnosis is typically suspected based on symptoms and confirmed by genetic testing.[2]

Treatment includes special education programs and various types of therapy.[2] Surgery may be done to correct heart problems.[2] Dietary changes or medications may be required for high blood calcium.[2] The syndrome was first described in 1961 by New Zealander John C. P. Williams.[6][7] Williams syndrome affects between 1 in 7,500 to 1 in 20,000 people at birth.[5] Life expectancy is less than that of the general population, mostly due to the increased rates of heart disease.[4]

https://en.wikipedia.org/wiki/Williams_syndrome

WTF are you on about Rob?

[Anaxagoras]

I guess it does have an up side.

Those affected often have an outgoing personality, interact readily with strangers, and appear happy.[3][5]

That's the key sentence. Other than that, not exactly a great thing to have.

[ed]

Sounds like a person on drugs.

[Anaxagoras]

She's a lovely girl though. I hope she has a happy life.

[Anaxagoras]

Sounds like a person on drugs.

For all I know maybe that's what it's like. I don't have the condition so I wouldn't know, but I do know how my personality changes when I've been drinking. I'm normally not very talkative or outgoing, but I can talk your ear off sometimes if I've been drinking and you can't escape.

[Doctor X]

Looking through the literature on the syndrome, you have lack of development of control pathways from the frontal regions which are areas that get depressed by alcohol.

– J.D.

[sparks]

So a 'genetic drunk' then?

I could have saved a shit load of money...

[Doctor X]

Though, to take it seriously, they are not drunk.

It appears that they are, perhaps, disinhibited.

– J.D.

[sparks]

Fascinating.