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Williams syndrome

Disease definition

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 (e.g., joint laxity). Facial dysmorphism is characterized by a broad forehead, bitemporal narrowing, periorbital fullness, stellate and/or lacy iris pattern, short upturned nose with bulbous tip, long philtrum, wide mouth, full lips and mild micrognathia.


Classification level: Disorder
  • Synonym(s):
    • Deletion 7q11.23
    • Monosomy 7q11.23
    • Williams-Beuren syndrome
  • Prevalence: -
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q93.8
  • ICD-11: LD44.70
  • OMIM: 194050
  • UMLS: C0175702
  • MeSH: D018980
  • GARD: 7891
  • MedDRA: 10049644

Detailed information

General public


Disease review articles


Genetic Testing

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