Williams syndrome

noun Wil·liams syndrome \ ˈwil-yəmz- \

Definition of Williams syndrome

: a rare genetic disorder marked especially by hypercalcemia of infants, heart defects, characteristic facial abnormalities, and mild to moderate mental retardation but a high verbal aptitude

Origin and Etymology of williams syndrome

J. C. P. Williams born 1922 New Zealand physician


Medical Dictionary

Williams syndrome

noun Wil·liams syndrome \ ˈwil-yəmz- \
variants: also Williams-Beuren syndrome play \-ˈbȯi-rən-\

medical Definition of Williams syndrome

: a rare genetic disorder characterized especially by hypercalcemia of infants, heart defects (as supravalvular aortic stenosis), characteristic facial features (as an upturned nose, long philtrum, wide mouth, full lips, and pointed chin), a sociable personality, and mild to moderate mental retardation but a high verbal aptitude

Biographical Note for williams syndrome

  • Williams, J. C. P. (flourished 1961), New Zealand cardiologist. Williams was the principal author on a 1961 article on supravalvular aortic stenosis, with B. G. Barratt-Boyes and J. B. Lowe listed as secondary authors.
  • Beuren, Alois J. (1919–1984), German cardiologist. In 1962, a year after Williams, Beuren also published an article in the journal Circulation describing the same syndrome as it appeared in European patients.

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