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Williams syndrome

Pronunciation: wil'yums

Definition: disorder characterized by distinctive facies with shallow supraorbital ridges, medial eyebrow flare, stellate patterning of the irises, small nose with anteverted nares, malar hypoplasia with droopy cheeks, full lips, supravalvar aortic stenosis, neonatal hypocalcemia, mild mental retardation, and loquacious personality. Autosomal dominant inheritance; this is a contiguous gene deletion syndrome, and one of the genes mutated is the elastin gene (ELN) on chromosome 7q.

Synonym(s): elfin facies syndrome, supravalvar aortic stenosis-infantile hypercalcemia syndrome, Williams-Beuren syndrome

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.