What's Sturge-Weber syndrome?
Sturge-Weber syndrome is a rare congenital neurocutaneous disorder caused by a GNAQ gene mutation, producing capillary-venous malformations of the brain, skin, and eyes.
| Features mapped | 5 |
|---|---|
| Treatments mapped | 1 |
| Published sources | 6 |
| Last reviewed | 2026-08-04 |
Signs and symptoms
Arachnoid hemangiomatosis
An abnormal cluster of blood vessels over the surface of the brain (leptomeningeal capillary malformation) is a defining feature of Sturge-Weber syndrome.
Choroidal hemangioma
A vascular tumor at the back of the eye (choroidal hemangioma) can occur in Sturge-Weber syndrome.
Facial capillary hemangioma
A facial port-wine birthmark (a flat reddish vascular mark) is a hallmark of Sturge-Weber syndrome.
Glaucoma
Glaucoma, raised pressure inside the eye that can damage vision, is one of the defining features of Sturge-Weber syndrome.
Seizure
Seizures are a common neurological feature of Sturge-Weber syndrome, linked to the abnormal blood vessels in the brain.
Treatment and management
What the research describes, not a recommendation. Treatment decisions belong with your clinician.
This covers treatments that appear in the published research mapped here. Investigational and experimental therapies are not included, so their absence is a boundary of this map, not a sign they do not exist.
epilepsy surgery
For drug-resistant epilepsy in Sturge-Weber syndrome, epilepsy surgery such as hemispherectomy may be recommended.
Used to help with: Seizure.
“…hemispherectomy/hemispherotomy surgery is recommended for infants and children <36 months of age with drug resistant epilepsy secondary to select underlying lesional pathologies, including but not limited to hemimegaloencephaly, Rasmussen's encephalitis, Sturge-Weber…”
How to read the evidence labels
Where this comes from
This guide is built from 6 published source(s). Every claim above links back to one of them. Click any source ID to read the original on PubMed.
Take it further
Printed, source-linked documents built from this condition's graph — ready to bring to an appointment or attach to a coverage request. Every claim carries its published source, the same as this guide.