Monday, April 6, 2009


Williams Syndrome is a neurodevelopmental disorder (affecting about 1 in 7,500 births) which causes significant differences in the way the victim looks, socializes, hears, sees and learns. Williams Syndrome is caused by the deletion of 26 genes from chromosome 7. This deletion is what causes the unique physical manifestations common to all Williams Syndrome patients. These traits include:

1. Elfin appearance
2. Low nasal bridge
3. Unusually Cheerful Demeanor
4. High level of sociability
5. Normal or enhanced verbal skills
6. Perfect Pitch - and sensitive hearing
7. Bad Eyesight
8. Widely spaced teeth

People with Williams Syndrome can seem normal and are extremely engaging, but they are mentally retarded and have trouble with normal learning and reading social queues. They are also highly predisposed to anxiety disorders, phobias and some heart problems such as supravalvular aortic stenosis and transient hypercalcaemia. Their extremely sensitive hearing can be traumatic for them.

There is no treatment or cure for Williams Syndrome. It is managed through cardiological evaluations and developmental and psychological counseling.

Since this sick doesn't necessarily lead to an early death, but has some exceptional physical and psychological characteristics I rate it a
1 on my "lethality scale" (1-10)
and a 2 on my "disturbing scale" (1-10)

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