Sturge-Weber syndrome

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.

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
Seizures
A seizure is the physical changes in behavior that occurs during an episode of specific types of abnormal electrical activity in the brain. The term ...
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Headache
Paralysis or weakness on one side
Paralysis
Muscle function loss is when a muscle does not work or move normally. The medical term for complete loss of muscle function is paralysis.
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Learning disabilities
Glaucoma (very high fluid pressure in the eye)
Low thyroid function (hypothyroidism)
Hypothyroidism
Hypothyroidism is a condition in which the thyroid gland does not make enough thyroid hormone. This condition is often called underactive thyroid....
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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:

CT scan
CT scan
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MRI scan
MRI scan
A magnetic resonance imaging (MRI) scan is an imaging test that uses powerful magnets and radio waves to create pictures of the body. It does not us...
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X-rays

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
Laser therapy
Laser therapy is a medical treatment that uses a strong beam of light to cut, burn, or destroy tissue. The term LASER stands for light amplification...
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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.

Open References

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.

Sturge-Weber syndrome - soles of feet - illustration
This picture shows the soles of two feet involved with port wine stain. Port wine stains in the face may be seen in Sturge-Weber syndrome, which may also include glaucoma, retinal detachment, calcification of the outer layers of the cerebral cortex, and seizures.
Sturge-Weber syndrome - soles of feet
illustration
Sturge-Weber syndrome - legs - illustration
Sturge-Weber syndrome is a disease that affects the skin and nervous system (neurocutaneous) and is associated with Port Wine Stain, red vascular markings on the face and other parts of the body (shown here on the legs). This is an unusual case, due to the large size of the lesion (extensive involvement). Occasionally seizures or learning disorders are also associated with Sturge-Weber syndrome.
Sturge-Weber syndrome - legs
illustration
Port wine stain on a child's face - illustration
Port wine stains are always present at birth. In an infant, they are flat, pink, vascular lesions. Common locations include the face and neck, but they may be present anywhere on the body. Port wine stains may appear in association with other syndromes.
Port wine stain on a child's face
illustration

Sturge-Weber syndrome - soles of feet - illustration
This picture shows the soles of two feet involved with port wine stain. Port wine stains in the face may be seen in Sturge-Weber syndrome, which may also include glaucoma, retinal detachment, calcification of the outer layers of the cerebral cortex, and seizures.
Sturge-Weber syndrome - soles of feet
illustration
Sturge-Weber syndrome - legs - illustration
Sturge-Weber syndrome is a disease that affects the skin and nervous system (neurocutaneous) and is associated with Port Wine Stain, red vascular markings on the face and other parts of the body (shown here on the legs). This is an unusual case, due to the large size of the lesion (extensive involvement). Occasionally seizures or learning disorders are also associated with Sturge-Weber syndrome.
Sturge-Weber syndrome - legs
illustration
Port wine stain on a child's face - illustration
Port wine stains are always present at birth. In an infant, they are flat, pink, vascular lesions. Common locations include the face and neck, but they may be present anywhere on the body. Port wine stains may appear in association with other syndromes.
Port wine stain on a child's face
illustration

A Closer Look

Talking to your MD

Self Care

Tests for Sturge-Weber syndrome

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.

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Health Library

Sturge-Weber syndrome

Causes

Port-wine stains

Symptoms

Seizures

Paralysis

Hypothyroidism

Exams and Tests

Glaucoma

CT scan

MRI scan

Treatment

Laser therapy

Support Groups

Outlook (Prognosis)

Possible Complications

When to Contact a Medical Professional