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Williams Syndrome

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Encyclopedia of Autism Spectrum Disorders

Synonyms

Williams-Beuren syndrome

Short Description or Definition

Williams syndrome (WS) is a neurodevelopmental disorder caused by a hemizygous deletion of approximately 25 genes on chromosome 7q.23. Although some variability is common, characteristic physical, cognitive, and personality profiles do exist within WS. Physical characteristics include dysmorphic facial features, short stature, musculoskeletal problems, and connective tissue abnormalities including congenital heart conditions. Cognitive features generally include impaired intellectual functioning (within the mild range of intellectual disability), with a marked weakness in visuospatial constructive abilities. Language development is typically delayed, but language abilities generally ultimately fall at the same level as overall functioning. Personality features include overfriendliness and sociability despite impaired social skills. Attention problems and anxiety are common.

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Results of FISH testing are used...

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References and Reading

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Correspondence to Faye van der Fluit .

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van der Fluit, F., Klein-Tasman, B.P. (2015). Williams Syndrome. In: Volkmar, F. (eds) Encyclopedia of Autism Spectrum Disorders. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6435-8_1629-5

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  • DOI: https://doi.org/10.1007/978-1-4614-6435-8_1629-5

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