Learn about Williams Syndrome

As we celebrate Developmental Disabilities Awareness Month, we are sharing information about specific developmental disabilities.

Developmental disabilities are a group of conditions due to an impairment in physical, learning, language, or behavior areas. About one in six children in the U.S. have one or more developmental disabilities or other developmental delays.

One condition that causes developmental delays is Williams Syndrome, a genetic condition that is present at birth and occurs equally in males and females in cultures world wide.

Williams syndrome is characterized by medical problems, including cardiovascular disease, developmental delays, and learning challenges. These often occur side by side with striking verbal abilities, highly social personalities, and an affinity for music. Distinctive facial features that typically become more pronounced with age may include a round face, full cheeks, thick lips, a large mouth, and a broad nasal bridge. Individuals may also have short eyelid folds  flared eyebrows, a small lower jaw, and prominent ears.

Williams syndrome is caused by the spontaneous deletion of 26-28 genes on chromosome #7 at the time of conception. The deletion can occur in either the egg or the sperm. In most families, the child with Williams syndrome is the only one to have the condition in his or her entire extended family.

There are two DNA tests that can determine if a person has Williams syndrome, the FISH test and the Microarray.