Williams-Beuren 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.
Synonym(s): elfin facies syndrome, supravalvar aortic stenosis-infantile hypercalcemia syndrome, Williams-Beuren syndrome
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.
Synonym(s): elfin facies syndrome, supravalvar aortic stenosis-infantile hypercalcemia syndrome, Williams-Beuren syndrome
Farlex Partner Medical Dictionary © Farlex 2012
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.
Synonym(s): elfin facies syndrome, Williams-Beuren syndrome.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012
Williams-Beuren syndrome
(wil'yamz-bur'en) [J.C.P. Williams; A.J. Beuren, Ger. cardiologist, 1919–1984]
Williams syndrome.Medical Dictionary, © 2009 Farlex and Partners