William’s Syndrome

Williams syndrome, also known as Williams-Beuren syndrome, is a rare genetic disorder characterized by growth delays before and after birth (prenatal and postnatal growth retardation), short stature, a varying degree of mental deficiency, and distinctive facial features that typically become more pronounced with age. Such characteristic facial features may include a round face, full cheeks, thick lips, a large mouth that is usually held open, and a broad nasal bridge with nostrils that flare forward (anteverted nares). Affected individuals may also have unusually short eyelid folds (palpebral fissures), flared eyebrows, a small lower jaw (mandible), and prominent ears. Dental abnormalities may also occur including abnormally small, underdeveloped teeth (hypodontia) with small, slender roots.

Williams syndrome may also be associated with heart (cardiac) defects, abnormally increased levels of calcium in the blood during infancy (infantile hypercalcemia), musculoskeletal defects, and/or other abnormalities.

National Organization for Rare Disorders (NORD)

References

For More Information

Learn more about genetics on our Genetic Disorders page.

Synonyms of Williams Syndrome

  • Beuren Syndrome
  • Early Hypercalcemia Syndrome with Elfin Facies
  • Elfin Facies with Hypercalcemia
  • Hypercalcemia-Supravalvar Aortic Stenosis
  • WBS
  • Williams-Beuren Syndrome
  • WMS

Tay-Sachs Disease

  • National Tay-Sachs & Allied Diseases Association, Inc. (NTSAD) is one of the oldest patient advocacy groups in the country. We focus on funding research, supporting over 500 families and individuals worldwide, and raising awareness to prevent disease. Today, NTSAD is recognized as a leading non-profit patient group with a demonstrated commitment to service, science and support. NTSAD gives help and hope to thousands of individuals and families from many backgrounds and ethnicities who have been or are affected by Tay-Sachs, Canavan and related genetic diseases all over the world.
  • NINDS Tay-Sachs Disease Information Page from the National Institute of Neurological Disorders and Stroke (NINDS); National Institutes of Health (NIH).  Updated
  • Tay-Sachs Disease Genetics Home Reference from the Lister Hill National Center for Biomedical Communications (LHNCBC), U.S. National Library of Medicine (NLM), National Institutes of Health (NIH), Department of Health & Human Services (HHS), USA.gov.