• 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.
  NCI
  U.S. National Cancer Institute, 2021
• A non-inherited congenital condition with vascular and neurological abnormalities. It is characterized by facial vascular nevi (PORT-WINE STAIN), and capillary angiomatosis of intracranial membranes (MENINGES; CHOROID). Neurological features include EPILEPSY; cognitive deficits; GLAUCOMA; and visual defects.
  NLM Medical Subject Headings
  U.S. National Library of Medicine, 2025
• A rare, congenital disorder that affects the brain, skin, and eyes. Abnormal blood vessel growth occurs in the trigeminal nerve in the face and the meninges (covering) of the brain. This abnormal growth causes red or purple skin discoloration (sometimes called a port wine stain), usually on one side of the face, and can also cause seizures, learning disabilities, and glaucoma.
  NCI Dictionary of Cancer Terms
  U.S. National Cancer Institute, 2021
• Sturge-Weber syndrome is a congenital vascular disorder characterized by a facial port-wine nevus, a leptomeningeal angioma, and neurologic complications (eg, seizures, focal neurologic deficits, intellectual disability). Diagnosis is clinical. Treatment is symptomatic.
  Merck Manuals
  Merck & Co., Inc., 2025
• Sturge-Weber syndrome (SWS), also called encephalotrigeminal angiomatosis, is a neurocutaneous disorder with angiomas that involve the leptomeninges (leptomeningeal angiomas [LAs]) and the skin of the face, typically in the ophthalmic (V1) and maxillary (V2) distributions of the trigeminal nerve. The hallmark of SWS is a facial cutaneous...
  Medscape
  WebMD, 2025
• Sturge-Weber syndrome (SWS) is a rare disorder affecting the skin and nervous system. Babies with SWS are born with a birthmark on their face known as a port-wine stain. Port-wine birthmarks are caused by enlarged blood vessels right underneath the skin. People with Sturge-Weber syndrome also have clusters of abnormal blood vessels...
  NIH Genetic and Rare Diseases
  National Center for Advancing Translational Sciences