William Syndrome Aidan Govan

Williams syndrome is caused by the deletion of genetic material from chromosome 7. The deleted region of chromosome 7 consists of 26-28 genes. The deleted genes consist of: ELN, GTF2I, CLIP2, LIMK1, etc. Scientists believe that the loss of the ELN gene is associated with the cardiovascular diseases that people with Williams syndrome get. The most common cardiovascular disease they get is Supravalvular Aortic Stenosis. The other ones cause characteristic abnormalities.
People with Williams syndrome have noticeable changes in their facial features, as shown in the picture above. They have a small chin, wide mouth, prominent lower lip, long upper lip, widely spaced teeth, sunken nasal bridge, etc. Williams syndrome is not inherited. It occurs from random events during the formation of reproduction cells. Williams syndrome is considered an autosomal dominant condition. There are many ways to diagnose if a baby has Williams syndrome, in fact, its too many to write all of them down, so I will leave a link down at the bottom at the page. Unfortunately, there is no cure for Williams Syndrome, but there are ways to treat it. Williams Syndrome can be treated through its symptoms, for example, narrowed blood vessels can be treated if they cause symptoms. Physical therapy and speech therapy can be used. Treatment is based on the individuals symptoms. Regular checkups are necessary.

Williams syndrome affects 1 in 75,000 to 10,000 people.





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Aidan Govan

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