Living with Sturge-Weber syndrome
A condition present from birth that affects blood vessels in the brain, skin, and eyes, often with a port-wine birthmark.
Understanding Sturge-Weber syndrome
It has three main features: a red or pink birthmark (port-wine birthmark), a brain blood vessel difference (leptomeningeal angioma), and glaucoma, or high pressure in the eye. Not everyone has all three. The birthmark is usually on one side of the face. Brain changes can cause stroke-like episodes with temporary weakness on one side, vision changes, seizures, and migraines.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Port-wine birthmark, usually on the face
- Seizures
- Glaucoma (high eye pressure)
- Headaches
- Delayed development or learning difficulty
- Temporary weakness on one side of the body
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, ear, nose, and throat specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in GNAQ are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Alliance to Cure Cavernous Malformation, Sturge-Weber Foundation and Vascular Birthmarks Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Alliance to Cure Cavernous Malformation, Sturge-Weber Foundation, Vascular Birthmarks Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Alliance to Cure Cavernous Malformation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the GNAQ gene are linked to this condition.
Also known as: angiomatosis oculo-orbital-thalamo-encephalic syndrome; encephalocutaneous angiomatosis; encephalofacial angiomatosis; encephalofacial hemangiomatosis; encephalotrigeminal angiomatosis; encephalotrigeminal syndrome
Patient organizations
- Alliance to Cure Cavernous MalformationSturge-Weber syndrome · United States
- Sturge-Weber FoundationSturge-Weber syndrome · United States
- Vascular Birthmarks FoundationSturge-Weber syndrome · United States
- The Hemispherectomy FoundationSturge-Weber syndrome · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Sturge-Weber syndrome.
Explore research for Sturge-Weber syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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