Williams Syndrome

Definition

Williams syndrome, first described in 1961, is a rare genetic condition with a wide array of clinical features.

Description

Typical facial features seen in children with Williams syndrome include a wide mouth with full lips, a small chin, and a short, slightly upturned nose. Children with blue or green eyes often times show a starburst pattern in the colored part (iris) of the eyes. An unusual narrowing of the aorta called supravalvular aortic stenosis is often present, and hernias are often seen in the inguinal area of the abdomen. The blood vessels and abdominal wall often show weakness or altered development. Muscle tone is typically low, and children are often on the low end of birth weight, with relatively poor weight gain and growth in their early years.

Most children with Williams syndrome have a remarkable contrast between verbal abilities and spatial abilities. While overall...

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