Williams syndrome

(redirected from supravalvar aortic stenosis-infantile hypercalcemia syndrome)
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Wil·liams syn·drome

(wil'yŭms), [MIM*194050]
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.

Wil·liams syn·drome

(wil'yŭms), [MIM*194050]
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.

Williams syndrome

(wĭl′yəms) or

Williams-Beuren syndrome

(-byo͝or′ən)
n.
A genetic disorder characterized by cardiovascular defects, developmental delays, intellectual disability, distinctive facial features, and a friendly, talkative manner. It is caused by deletion of material from chromosome 7.

Wil·liams syn·drome

(wil'yăms sin'drōm)
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, Williams-Beuren syndrome.

Williams,

J.C.P., 20th century New Zealand cardiologist.
Williams syndrome - multiple congenital disorders.

Wil·liams syn·drome

(wil'yăms sin'drōm) [MIM*194050]
Disorder characterized by distinctive facies with shallow supraorbital ridges, medial eyebrow flare, stellate patterning of the irises, small nose with anteverted nares, and loquacious personality.
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