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Sturge-Weber syndrome

Other Names: Encephalotrigeminal angiomatosis

Sturge-Weber syndrome is a rare skin and neurological disorder characterized by the presence of birthmarks such as port-wine stains on the face, and often neurologic or eye problems. It is caused by somatic mosaic mutations in the GNAQ gene.

Characteristics of Sturge-Weber syndrome
Sturge-Weber syndrome is a condition that is present from birth. The most common feature in this condition is the abnormal growth of blood vessels (angiomas). A child with Sturge-Weber syndrome has a large pink, red or purple birthmark on their face called a “port-wine stain.” In addition, people with Sturge-Weber syndrome may have problems with their eyes and nervous system, and occasionally some problems with the internal organs. Many individuals with Sturge-Weber syndrome develop glaucoma – an eye condition where there is increased pressure within the eye and causes progressive vision loss. Some of the neurological problems seen in Sturge-Weber syndrome include developmental delays, learning disabilities, and seizures. The features of Sturge-Weber syndrome can be very different from person to person. There is no way to predict what problems a person with Sturge-Weber syndrome will have or how serious those problems will be. Sturge-Weber syndrome is rare and affects males and females equally. It occurs in about 1 in every 50,000 live births. However, many people with Sturge-Weber syndrome are probably never diagnosed, so it may be more common than previously thought.

Sturge-Weber syndrome can be difficult to diagnose. There is no list of signs or symptoms that must be present to say someone has Sturge-Weber syndrome. For example, most people with Sturge-Weber syndrome have a port-wine stain, however most people with a port-wine stain do not have Sturge-Weber syndrome.
Sturge-Weber syndrome is caused by a change or mutation in a gene called GNAQ. The genetic change is not present in every cell of the body. This is called “mosaicism,” meaning that there are some cells of the body with the mutation (e.g., the cells from where the port-wine stain is located) and some without.

Management of Sturge-Weber syndrome is often based on the signs and symptoms present. Affected individuals should have a full skin examination, and brain imaging (e.g., MRI) is often done to see if there is unusual blood vessel growth on the brain’s surface. People with Sturge-Weber syndrome usually see a variety of specialists including a neurologist, ophthalmologist, dermatologist, and/or plastic surgeon.
Treatments may include laser treatment to reduce or remove port-wine stains , medicine or surgery to control seizures, medicine or surgery to treat glaucoma, headache management, medicine to prevent blood clotting, and special education and rehabilitation services for developmental delays.

Mode of inheritance
Sturge-Weber syndrome is caused by a brand new (de novo) mutation in the GNAQ gene. The mutation is present in only some cells of the body (i.e. mosaicism), and is not thought to be inherited.

Risk to family members
Because Sturge-Weber syndrome is a sporadic disorder that is not typically inherited, the risk of other siblings being affected is thought to be very low.

Special considerations

The Sturge-Weber Foundation
The Sturge-Weber Syndrome Community
Sturge-Weber Syndrome Community Canada
National Institute of Neurological Disorders and Stroke: Sturge-Weber Information Page

Comi, AM. (2011)."Presentation, diagnosis, pathophysiology, and treatment of the neurological features of Sturge-Weber syndrome." Neurologist 17(4): 179-184.
Shirley, MD. et al. (2013)."Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutations in GNAQ." New England Journal of Medicine 368(21): 1971-1979.



Created by:Dinel Pond, MS, CGC

Edited by:Seema Jamal, MSc, LCGC

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