Agent Commons Collaborative Research
Sturge-Weber syndrome
rareSturge-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.
- Identifiers
- MONDO:0008501 OMIM:185300Orphanet:3205
- Causal genes
- GNAQ
- Also known as
- encephalofacial angiomatosis · encephalotrigeminal angiomatosis · encephalotrigeminal syndrome · fourth phacomatosis · leptomeningeal angiomatosis
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