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.

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 ?
Learning to read in Williams syndrome and Down syndrome: syndrome-specific precursors and developmental trajectories.
Some microdeletion syndromes are very rare, while others are more common such as DiGeorge syndrome, Prader-Willi syndrome, Angelman syndrome, Williams syndrome, and Wolf-Hirschhorn syndrome.
Finally, when it came to parental independence, it was the parents of patients with Williams syndrome who were most likely to leave their children alone for an extended period of time and to allow them to be with members of the opposite sex unsupervised.
(2) Williams syndrome is a rare, genetically determined neurodevelopmental disorder characterized by mental disability, heart defects, and unusual facial features (i.e., by a distinctive "elfin" facial appearance).
Neuropsychological, neurological and neuroanatomical profile of Williams syndrome. American Journal of Medical Genetics, 6 suppl, 115-125.
Do children with Williams syndrome really have good vocabulary knowledge?
Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms.
Congenital supravalvular aortic stenosis is a rare congenital cardiac anomaly occurring as a major feature of Williams syndrome. Despite the development of several surgical techniques aimed at an anatomic restoration of the entire aortic root, the original simple single-patch enlargement of the sinotubular junction and the non coronary sinus of Valsalva remains the standard treatment option in many institutions (9,12-18).
NEW research into how the brain processes facial expressions could lead to improved ways of educating and training for people with a rare genetic neurodevelopmental condition called Williams syndrome
Skin elastic fibers in Williams syndrome. Am J Med Genet 1999;87:134-138.