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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.

ORPHA:904

Classification level: Disorder
  • 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: Q93.8
  • OMIM: 194050
  • UMLS: C0175702
  • MeSH: D018980
  • GARD: 7891
  • MedDRA: 10049644

Detailed information

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.