- Williams syndrome
- Wil·liams syndrome 'wil-yəmz- n a rare genetic disorder characterized esp. 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 a high verbal aptitude, but with mild to moderate mental retardationWilliams J. C. P. (fl 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.
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a hereditary condition, caused by a defect (a deletion) in chromosome 7, marked by a characteristic 'elfin' facial appearance (including large eyes, a wide mouth, and small chin), hypercalcaemia, short stature, mental retardation, and aortic stenosis. Most affected children are highly sociable and have unusual conversational ability, using a rich and complex vocabulary. The condition can be diagnosed prenatally.J. C. P. Williams (20th century), British cardiologist* * *
Williams-Beuren syndrome a neurodevelopmental disorder caused by a deletion on chromosome 7, characterized by supravalvular aortic stenosis, mental retardation, elfin facies, transient idiopathic hypercalcemia, musculoskeletal defects, growth deficiency, hypersensitivity to sound, visual impairment, and a hoarse voice; sometimes inherited in an autosomal recessive pattern. Called also elfin facies s.
Medical dictionary. 2011.