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.
- William's Syndrome from the National Organization for Rare Disorders (NORD). New
- William's Syndrome Information page from the National Institutes of Health (NIH), and the National Institute of Neurological Disorders and Stroke (NINDS) New
- Examples of Unbalanced Chromosomal Arrangements – click the accordion-title Williams syndrome (chromosome 7 deletion) from the Genetic Science Learning Center, University of Utah.
- William's Syndrome Association The Williams Syndrome Association (WSA) was formed in 1982 by, and for, families of individuals with Williams syndrome.
- "Different Minds", an article from Discover magazine by Robert Finn, science and medical writer.
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
- Williams-Beuren Syndrome