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Sturge-Weber syndrome

Disease definition

Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies.

ORPHA:3205

  • Synonym(s):
    • Encephalofacial angiomatosis
    • Encephalotrigeminal angiomatosis
    • SWS
    • Sturge-Weber-Dimitri syndrome
    • Sturge-Weber-Krabbe angiomatosis
    • Sturge-Weber-Krabbe syndrome
  • Prevalence: 1-9 / 100 000
  • Inheritance: Not applicable 
  • Age of onset: Infancy, Neonatal, Childhood, Adolescent
  • ICD-10: Q85.8
  • OMIM: 185300
  • UMLS: C0038505
  • MeSH: D013341
  • GARD: 7706
  • MedDRA: 10042265  10057653

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