Williams Syndrome

Excerpt

Williams syndrome is a rare genetic and neurodevelopmental disorder due to multiple gene deletions on chromosome 7. Williams syndrome affects many organ systems but is frequently noted shortly after birth with characteristic facial features, and subsequent workup often reveals a characteristic supravalvular aortic stenosis. The distinctive facies are often described as elfin-like features, with a broad forehead, full cheeks, an under-developed chin, and a shortened nose. Other associated features include systemic hypercalcemia, connective tissue abnormalities, growth abnormalities, intellectual disability, behavior deficits, and a gregarious personality.

Cardiologist Dr. John Cyprian Phipps Williams first described the syndrome in 1961. In 1962, German physician Dr. A. J. Beuren found similar findings in a series of 3 patients, naming the syndrome Williams-Beuren syndrome, which is still used in some publications. In 1975, the definitive treatise on the syndrome's cardiovascular, behavioral, and systemic effects was published.