Williams Syndrome

Definition of Williams Syndrome

Williams syndrome: A genetic disorder characterized by mild mental retardation, unique personality characteristics, unusual facial features, and cardiovascular disease. The level of calcium tends to be high in blood (hypercalcemia) and urine (hypercalciuria).

Mental retardation is the rule and ranges from severe to mild. Personality features include overfriendliness, general anxiety, and attention deficit disorder. Facial features include narrow forehead, fullness about the eyes, short nose, flat midface, full lips, wide mouth, small jaw, and prominent earlobes. Supravalvar aortic stenosis (narrowing of the aorta just above the valve) is the most common and important cardiovascular abnormality.


Williams syndrome facts*

*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.

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