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.

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 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.

What are the symptoms of Sturge-Weber Syndrome?

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)
Not sure about your diagnosis?
Check Your Symptoms
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
Who are the top Sturge-Weber Syndrome Local Doctors?
Elite in Sturge-Weber Syndrome
Pediatric Neurology | Pediatrics | Neurology
Elite in Sturge-Weber Syndrome
Pediatric Neurology | Pediatrics | Neurology

Kennedy Krieger Associates

716 N Broadway, 
Baltimore, MD 
Languages Spoken:
English
Accepting New Patients

Anne Comi is a Pediatric Neurologist and a Pediatrics provider in Baltimore, Maryland. Dr. Comi and is rated as an Elite provider by MediFind in the treatment of Sturge-Weber Syndrome. Her top areas of expertise are Sturge-Weber Syndrome, Parkes Weber Syndrome, Stork Bite, and Epilepsy in Children. Dr. Comi is currently accepting new patients.

Elite in Sturge-Weber Syndrome
Elite in Sturge-Weber Syndrome
Tokyo, JP 

Hidenori Sugano practices in Tokyo, Japan. Sugano and is rated as an Elite expert by MediFind in the treatment of Sturge-Weber Syndrome. Their top areas of expertise are Sturge-Weber Syndrome, Hemangioma, Parkes Weber Syndrome, and Epilepsy.

 
 
 
 
Learn about our expert tiers
Learn More
Elite in Sturge-Weber Syndrome
Elite in Sturge-Weber Syndrome
Hongo, JP 

Madoka Nakajima practices in Hongo, Japan. Nakajima and is rated as an Elite expert by MediFind in the treatment of Sturge-Weber Syndrome. Her top areas of expertise are Normal Pressure Hydrocephalus, Hydrocephalus, Sturge-Weber Syndrome, Hemangioma, and Deep Brain Stimulation.

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 check for or 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.

What are the latest Sturge-Weber Syndrome Clinical Trials?
Integrated Longitudinal Studies to Identify Biomarkers and Therapeutic Strategies for Sturge-Weber Syndrome

Summary: Individuals with Sturge-Weber Syndrome (SWS) sometimes have brain involvement which can result in seizures, stroke-like episodes and neurologic deficits. The purpose of this study is to integrate longitudinal clinical data, radiological data, and blood biomarkers of Sturge-Weber syndrome patients. The research aims are: 1. To integrate longitudinal clinical data, radiological data, and blood bioma...

Match to trials
Find the right clinical trials for you in under a minute
Get started
Longitudinal Neuroimaging in Sturge-Weber Syndrome

Summary: In this project the accuracy of a novel, rapid magnetic resonance imaging (MRI) approach to detect brain abnormalities in patients with Sturge-Weber syndrome (SWS) will be tested; this new imaging approach, that can create multiple types of MR images in about 5 minutes, without contrast administration (and sedation even in young children), can be also readily applied in other pediatric brain disor...

Who are the sources who wrote this article ?

Published Date: December 31, 2023
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 C. Dugdale, MD, 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 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.