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.
Results of FISH testing are used...
KeywordsAutism Spectrum Disorder Intellectual Disability Williams Syndrome Specific Language Impairment Fetal Alcohol Syndrome
References and Reading
- American Academy of Pediatrics Committee on Genetics. (2001). Healthcare supervision for children with Williams syndrome. Pediatrics, 107, 1192–1204.Google Scholar
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- For more information, see the Williams Syndrome Association website: www.williams-syndrome.org. Retrieved May 1, 2012.
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- Morris, C. A., Mervis, C. B., Hobart, H. H., Gregg, R. G., Bertrand, J., Ensing, G. J., et al. (2003). GTF21 hemizygosity implicated in mental retardation in Williams syndrome: Genotype-phenotype analysis of five families with deletions in the Williams syndrome region. American Journal of Medical Genetics Part A, 123A(1), 45–59.PubMedCrossRefGoogle Scholar