Pregnancy SmartSite^TM

Sturge-Weber syndrome

Sturge-Weber syndr...Sturge-Weber syndrome - soles of feet
Sturge-Weber syndr...Sturge-Weber syndrome - legs
Port wine stain on...Port wine stain on a child's face

Encephalotrigeminal angiomatosis; SWS

Definition

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.

Causes

In many people, the cause of Sturge-Weber is due to a variation 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.

Symptoms

Symptoms of SWS include:

Port-wine stain (more common on the upper face and eyelid than the rest of the body)
Seizures
Headache
Paralysis or weakness on one side
Learning disabilities
Glaucoma (very high fluid pressure in the eye)
Low thyroid function (hypothyroidism)

Exams and Tests

The health care provider should check all birthmarks, including a port-wine stain.

Glaucoma may be one sign of the condition.

Tests may include:

Treatment

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

Support Groups

More information and support for people with SWS and their families can be found at:

The Sturge-Weber Foundation -- sturge-weber.org
National Organization for Rare Disorders -- rarediseases.org/rare-diseases/sturge-weber-syndrome/#supporting-organizations
NIH Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/7706/sturge-weber-syndrome

Outlook (Prognosis)

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 check for or treat glaucoma. They also will need to see a neurologist to treat seizures and other nervous system symptoms.

Possible Complications

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
Paralysis
Seizures

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.

Prevention

There is no known prevention.

References

Dinulos JGH. Vascular tumors and malformations. In: Dinulos JGH, ed. Habif's Clinical Dermatology: A Color Guide to Diagnosis and Therapy. 7th ed. Philadelphia, PA: Elsevier; 2021:chap 23.

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 AL. Neurocutaneous syndromes. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 636.

Schedule An Appointment

Review Date: 12/31/2023

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 C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. No warranty of any kind, either expressed or implied, is made as to the accuracy, reliability, timeliness, or correctness of any translations made by a third-party service of the information provided herein into any other language. © 1997- A.D.A.M., a business unit of Ebix, Inc. Any duplication or distribution of the information contained herein is strictly prohibited.