Williams syndrome

Wil·liams syndrome 'wil-yəmz- n a rare genetic disorder characterized esp. by hypercalcemia of infants, heart defects (as supravalvular aortic stenosis), characteristic facial features (as an upturned nose, long philtrum, wide mouth, full lips, and pointed chin), a sociable personality, and a high verbal aptitude, but with mild to moderate mental retardation
Williams J. C. P. (fl 1961)
New Zealand cardiologist. Williams was the principal author on a 1961 article on supravalvular aortic stenosis, with B. G. Barratt-Boyes and J. B. Lowe listed as secondary authors.

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a hereditary condition, caused by a defect (a deletion) in chromosome 7, marked by a characteristic 'elfin' facial appearance (including large eyes, a wide mouth, and small chin), hypercalcaemia, short stature, mental retardation, and aortic stenosis. Most affected children are highly sociable and have unusual conversational ability, using a rich and complex vocabulary. The condition can be diagnosed prenatally.
J. C. P. Williams (20th century), British cardiologist

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Williams-Beuren syndrome a neurodevelopmental disorder caused by a deletion on chromosome 7, characterized by supravalvular aortic stenosis, mental retardation, elfin facies, transient idiopathic hypercalcemia, musculoskeletal defects, growth deficiency, hypersensitivity to sound, visual impairment, and a hoarse voice; sometimes inherited in an autosomal recessive pattern. Called also elfin facies s.

Medical dictionary. 2011.

Look at other dictionaries:

  • Williams syndrome — Infobox Disease Name = Williams syndrome Caption = DiseasesDB = ICD10 = ICD10|Q|93|8|q|90 ICD9 = ICD9|758.9 ICDO = OMIM = 194050 MedlinePlus = 001116 eMedicineSubj = ped eMedicineTopic = 2439 MeshID = D018980 Williams syndrome (WS; also Williams… …   Wikipedia

  • Williams syndrome — noun 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 vocabulary •… …   Useful english dictionary

  • Williams syndrome — noun Etymology: J. C. P. Williams b1922 New Zealand physician Date: 1981 a rare genetic disorder marked especially by hypercalcemia of infants, heart defects, characteristic facial abnormalities, and mild to moderate mental retardation but a high …   New Collegiate Dictionary

  • Williams syndrome — a hereditary condition, caused by a defect (a deletion) in chromosome 7, marked by a characteristic ‘elfin’ facial appearance (including large eyes, a wide mouth, and small chin), hypercalcaemia, short stature, mental retardation, and aortic… …   The new mediacal dictionary

  • Williams syndrome — /ˈwɪljəmz sɪndroʊm/ (say wilyuhmz sindrohm) noun a rare genetic disorder characterised by an elfin facial shape, mild intellectual disability, and a high level of verbal skills and sociability. {first dentified in 1961 by NZ cardiologist, JCP… …   Australian English dictionary

  • Zori Stalker Williams syndrome — is a rare syndrome associated with a range of diseases and symptoms such as Pectus excavatum, macrocephaly and dysplastic nails, familial short stature, developmental delay and distinctive facies. [RareDiseases|374|Zori Stalker Williams syndrome] …   Wikipedia

  • Syndrome de Williams — Classification et ressources externes CIM 10 Q93.8 CIM 9 758.9 OMIM …   Wikipédia en Français

  • Syndrome de Williams-Beuren — Syndrome de Williams Syndrome de Williams Autre nom Syndrome de Williams Beuren Référence MIM …   Wikipédia en Français

  • Syndrome de Williams Beuren — Syndrome de Williams Syndrome de Williams Autre nom Syndrome de Williams Beuren Référence MIM …   Wikipédia en Français

  • Syndrome de williams — Autre nom Syndrome de Williams Beuren Référence MIM …   Wikipédia en Français

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