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Sturge-Weber syndrome

Disease definition

A rare congenital neurocutaneous syndrome defined by a facial capillary malformation or port-wine birthmark (PWB) associated with cerebral and ocular ipsilateral vascular malformations in most of the cases resulting in variable ocular and neurological complications.


Classification level: Disorder
  • 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

Detailed information

Article for general public


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