| LC control no. | sh 98004230 |
|---|---|
| LC classification | RJ506.W44 |
| Topical heading | Williams syndrome |
| Variant(s) | Beuren syndrome Contiguous gene syndrome Elfin facies syndrome Fanconi-Schlesinger syndrome Idiopathic hypercalcemia-supravalvular aortic stenosis syndrome Supravalvar aortic stenosis syndrome Williams-Barratt syndrome Williams-Beuren syndrome Williams contiguous gene syndrome |
| See also | Aortic valve stenosis in children Intellectual disability Syndromes in children |
| Found in | Work cat.: 98-126569: Identificazione e caratterizzazione della sindrome di Williams, c1997. MESH, June 13, 2018 (Williams syndrome. Scope note: A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy. Entry terms (partial): Beuren Syndrome; Contiguous Gene Syndrome; Supravalvar Aortic Stenosis Syndrome; Williams Contiguous Gene Syndrome; Williams-Beuren Syndrome. Mapped to: Intellectual disability; Aortic stenosis, Supervalvular; Chromosome disorders) Dorland's med. dict. Jablonski's dict. |
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