| 释义 |
Williams syndrome
Williams syndrome n (Pathology) pathol an abnormality in the genes involved in calcium metabolism, resulting in mental retardation [C20: after J.C.P. Williams (born ?1930), New Zealand cardiologist]Thesaurus| Noun | 1. | Williams syndrome - a rare congenital disorder associated with deletion of genetic material in chromosome 7; characterized by mental deficiency and some growth deficiency and elfin faces but an overly social personality and a remarkable gift for vocabularysyndrome - a pattern of symptoms indicative of some disease |
EncyclopediaSeewsWilliams 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
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 syndromeWilliams 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. FinancialSeeWSSee WMS
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Words related to Williams syndromenoun a rare congenital disorder associated with deletion of genetic material in chromosome 7Related Words |