Learn About Sturge-Weber Syndrome

What is the definition of Sturge-Weber Syndrome?

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.

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What are the alternative names for Sturge-Weber Syndrome?

Encephalotrigeminal angiomatosis; SWS

What are the causes of Sturge-Weber Syndrome?

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.

What are the symptoms of Sturge-Weber Syndrome?

Symptoms of SWS include:

  • Port-wine stain (more common on the upper face and eye-lid 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 (hypothyroidism)
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What are the current treatments for Sturge-Weber Syndrome?

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
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What are the support groups for Sturge-Weber Syndrome?

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
What is the outlook (prognosis) for Sturge-Weber Syndrome?

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.

What are the possible complications of Sturge-Weber Syndrome?

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 should I contact a medical professional for Sturge-Weber Syndrome?

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.

How do I prevent Sturge-Weber Syndrome?

There is no known prevention.

Sturge-Weber syndrome - soles of feet
Sturge-Weber syndrome - legs
Port wine stain on a child's face
What are the latest Sturge-Weber Syndrome Clinical Trials?
Ahmed Valve Implantation Coated With Poly Lactic -Co-glycolic Acid (PLGA) Saturated With Mitomycin-C in the Management of Adult Onset Glaucoma in Sturge Weber Syndrome

Summary: Sturge weber's syndrome is an oculcutaneous syndrome, ocular manifestations may include heamangioma in the eye lids, choroidal heamangioma, or glaucoma, the glaucoma may present at infancy and may be due to resistance to aqueous outflow through trabecular meshwork(1), it may develop later and this is due to episcleral venous raised pressure.(2-3) Glaucoma associated with Sturge weber syndrome is d...

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Pilot, Open-label Study of Safety and Tolerability of QLS-101 in Adolescents With Sturge-Weber Syndrome (SWS)-Related Glaucoma Due to Elevated Episcleral Venous Pressure (EVP)

Summary: Open-label study of an investigational product (IP), QLS-101, with 28-day every morning (QAM) dosing to both eyes (OU) in adolescents with SWS who have clinical evidence of glaucoma and/or ocular hypertension (OHT) related to SWS elevated EVP in at least one eye.

What are the Latest Advances for Sturge-Weber Syndrome?
The outcomes of trans-scleral cyclophotocoagulation in pediatric glaucoma secondary to Sturge-Weber syndrome.
Hematoporphyrin monomethyl ether photodynamic therapy for the treatment of Sturge-Weber syndrome and large segmental facial port-wine stain.
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Who are the sources who wrote this article ?

Published Date: November 01, 2021
Published 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.

What are the references for this article ?

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 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.