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Williams-Beuren Syndrome - Medical Condition Information

Williams-Beuren Syndrome

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📋Overview

Williams-Beuren syndrome, commonly called Williams syndrome, is a rare genetic disorder caused by a deletion of multiple genes on chromosome 7q11.23. It is characterized by distinctive facial features, cardiovascular abnormalities, developmental delays, and a unique cognitive and personality profile. The term 'Williams-Beuren syndrome' is a legacy eponym; the preferred modern term is Williams syndrome.

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Medical codes (for reference)

UMLS CUI: C0175702
ICD-10-CM
Q93.82
MeSH
D018980
SNOMED CT (US)
63247009

Codes are provided for reference and interoperability. They are not a diagnosis.

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