Sturge-Weber Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** A congenital disorder caused by mutation in the GNAQ gene. It is characterized by the presence of a port-wine nevus birthmark on one or both sides of the face. Additional clinical manifestations may include seizures, leptomeningeal angiomas, glaucoma, progressive hemiparesis, and cognitive deficits.

**Synonyms:** - Encephalotrigeminal Syndrome - SWS - SWS - Sturge-Weber Disease - Sturge-Weber syndrome