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Williams Syndrome

Williams syndrome, described in this entry, is a rare, genetically based neurodevelopmental disorder characterized by a complex profile of impairments and abilities, and a host of serious cardiac, digestive, metabolic, and other medical problems. Especially common are a supravalvular aortic stenosis (narrowing of the aorta), accompanied by mild-to-moderate mental retardation as measured by standard IQ tests, as well as characteristic craniofacial features and heightened musical and narrative abilities. The prevalence of Williams syndrome is estimated at 1 in 20,000 births.

The disorder was named after a New Zealand cardiologist, J. C. P. Williams, who first described in 1961 four cases of young children who shared similar health problems and unusual facial features. This condition was also independently recognized as a syndrome in 1962 by German cardiologist ...

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