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Williams syndrome

ORPHA904
Synonym(s) Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
Prevalence Unknown
Inheritance Not applicable
or Unknown
Age of onset Neonatal
Antenatal
ICD-10
  • Q87.8
OMIM
UMLS
  • C0175702
MeSH
  • D018980
MedDRA
  • 10049644

Summary

Disease definition

Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

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Detailed information

Summary information
Review article
Clinical practice guidelines
Guidance for genetic testing
Article for general public
Clinical genetics review
Disability factsheet
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