Encephalotrigeminal angiomatosis; SWS
Sturge-Weber syndrome (SWS) is a rare disorder that is present at birth. A child with this condition will have a port-wine stain birthmark (usually on the face) and may have nervous system problems.
In many people, the cause of Sturge-Weber is due to a mutation of the GNAQ gene. This gene affects small blood vessels called capillaries in some but not all body cells. Problems in the capillaries cause the port-wine stains to form.
Sturge-Weber is not thought to be passed down (inherited) through families.
Exams and Tests
Treatment is based on the person's signs and symptoms, and may include:
- Anticonvulsant medicines for seizures
- Eye drops or surgery to treat glaucoma
- Laser therapy for port-wine stains
- Physical therapy for paralysis or weakness
- Possible brain surgery to prevent seizures
More information and support for people with SWS and their families can be found at:
- The Sturge-Weber Foundation --
- National Organization for Rare Disorders --
- NIH Genetic and Rare Diseases Information Center --
SWS is usually not life threatening. The condition does need regular lifelong follow-up. The person's quality of life depends on how well their symptoms (such as seizures) can be prevented or treated.
The person will need to visit an eye doctor (ophthalmologist) at least once a year to treat glaucoma. They also will need to see a neurologist to treat seizures and other nervous system symptoms.
These complications can occur:
- Abnormal blood vessel growth in the skull
- Continued growth of the port-wine stain
- Developmental delays
- Emotional and behavioral problems
- Glaucoma, which may lead to blindness
When to Contact a Medical Professional
Seizures, vision problems, paralysis, and changes in alertness or mental state may mean the coverings of the brain are involved. These symptoms should be evaluated right away.
There is no known prevention.
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Flemming KD, Brown RD. Epidemiology and natural history of intracranial vascular malformations. In: Winn HR, ed. Youmans and Winn Neurological Surgery. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 451.
Islam MP, Roach ES. Neurocutaneous syndromes. In: Jankovic J, Mazziotta JC, Pomeroy SL, Newman NJ, eds. Bradley and Daroff’s Neurology in Clinical Practice. 8th ed. Philadelphia, PA: Elsevier; 2022:chap 99.
Sahin M, Ullrich N, Srivastava S, Pinto A. Neurocutaneous syndromes. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 614.
Last reviewed on: 11/1/2021
Reviewed by: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.