Williams 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.

Williams syndrome

[wil′yəmz]
Etymology: J.C.P. Williams, New Zealand cardiologist, 20th century
supravalvular aortic stenosis, mental retardation, elfin facies, and transient hypercalcemia in infancy. Also called elfin facies syndrome.

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.
References in periodicals archive ?
For example, not all patients with cardiac abnormalities are tested for DiGeorge and Williams syndromes, thus, the calculated incidences are likely to be lower.
Intact perception of biological motion in the face of profound spatial deficits: Williams syndrome.
Cognitive processing of children with Williams syndrome.
Critical indexes of developmental persistence of phonological processes in a Williams Syndrome linguistic corpus.
Death following tonsillectomy in a child with Williams syndrome.
Speech timing and verbal short-term memory: Evidence for contrasting deficits in Down syndrome and Williams syndrome.
Keywords: Williams syndrome, case study, language, communication, autism
Finally, I propose hypotheses about the psychology of autism, APD, schizoid personality disorder, and Williams syndrome.
Cardivascular manifestations in 175 patiens with Williams syndrome.
Coach Chuck McFarland, 50, brought 15 power lifters from Jackson County, including his 29-year-old son, Chad, who has Williams syndrome, a learning disability.
Among its many unusual symptoms, the genetic disorder called Williams syndrome robs people of depth perception and the ability to visualize how different parts assemble into larger objects, as in a simple jigsaw puzzle.
Captain Meirion Jones' CharityTeam Stableford raised pounds 2, 447 for The Williams Syndrome Foundation.