Williams Syndrome

*Williams syndrome facts medical author: Charles Patrick Davis, MD, PhD

• Williams syndrome is a disorder in development that usually results in learning problems, attention deficit disorder, anxiety, and phobias but affected individuals have outgoing personalities; physically they have distinctive facial features (broad forehead, short nose with a broad tip, full cheeks, wide mouth with full lips, and dental problems) and frequently develop aortic stenosis, high blood pressure, and other cardiac and connective tissue related problems and hypercalcemia.
• About 1 in 7,500 to 20,000 people have Williams syndrome.
• Williams syndrome is caused by deletion of genetic material from chromosome 7; the deleted area includes more than 25 genes and not all may be deleted so individuals may vary in the amount of genetic material deleted.
• Most people do not inherit Williams syndrome; the deletions in chromosomes are due to random events that occur in eggs or sperm from their parents; the syndrome is autosomal dominant because only one copy of the altered chromosome 7 can cause the disorder.
• Williams syndrome has many names: Beuren syndrome, Elfin Facies Syndrome, Elfin Facies with hypercalcemia, Hypercalcemia-Supravalvar Aortic Stenosis, Infantile hypercalcemia, Supravalvar aortic stenosis syndrome, WBS, Williams-Beuren Syndrome, WMS, and WS.