Sturge-Weber syndrome (SWS) is a neurological (nervous system) condition. It is present at birth. SWS causes blood vessels to grow too much, forming growths called angiomas. These angiomas can lead to a port-wine birthmark on the face. They can also grow in the brain and cause symptoms such as seizures. With appropriate treatment, many people live a healthy life with SWS.
Sturge-Weber syndrome (SWS) is a condition that affects your skin and nervous system. It can affect the skin, brain and eyes. SWS is congenital (present at birth).
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Sturge-Weber syndrome causes blood vessels to grow too much, forming growths called angiomas.
Often, the first sign of SWS is a port-wine stain birthmark on the forehead and upper eyelid. Port-wine birthmarks look like dark red wine splashed on the skin. This birthmark occurs when too many blood vessels grow in the skin. Port-wine birthmarks are not dangerous or harmful. Many children with port-wine stain don’t have any other major issues.
Angiomas can also form in the brain. In some children, this leads to problems with their:
Sturge-Weber syndrome is rare. By some estimates, only one in 20,000-50,000 newborns have the condition. About three in 1,000 babies are born with a port-wine birthmark. Only about 6% of babies (around one in 20) with the birthmark also have neurological symptoms.
The cause of Sturge-Weber syndrome is a mutation in the GNAQ gene. This type of gene mutation occurs randomly in the developing embryo, affecting only certain tissues in the body. It is not hereditary (inherited from your parents).
Symptoms of Sturge-Weber syndrome can vary significantly. People with SWS may experience:
Often, the first step in diagnosing Sturge-Weber syndrome is a healthcare provider noticing and examining the port-wine birthmark. Babies born with the birthmark may also have tests to check for issues with their brain and eyes. Tests may include:
Sturge-Weber syndrome treatment varies depending on your specific symptoms. For example, laser skin resurfacing may lighten or remove the port-wine birthmark. Port-wine birthmarks are permanent. They do not go away without treatments.
If you experience seizures as a symptom of Sturge-Weber syndrome, treatment might include:
Other treatment for Sturge-Weber syndrome may include:
SWS gene mutations occur sporadically (for no clear reason). There is no proven way to prevent Sturge-Weber syndrome.
The extent of brain (neurological) involvement determines the outcomes for people with Sturge-Weber syndrome. If seizures begin before age 2, children are more likely to have cognitive impairment. If their seizures can’t be controlled with anti-seizure medications, surgery could be effective. In some people, severe eye involvement could cause retinal detachment and vision loss. Cosmetic effects of the facial port-wine stain can be minimized by laser therapy.
Klippel-Trenaunay syndrome (KTS) is a related rare disorder. KTS also is congenital and causes a port-wine birthmark.
There is no known link between KTS and SWS, but the two conditions can show similar symptoms. KTS can cause hypertrophy (overgrowth). It usually affects the lower limbs.
One of the most important aspects of living well with Sturge-Weber syndrome is building a positive self-image. You can help your child feel better about the port-wine birthmark by talking about it as a natural part of your child’s appearance.
It’s also important to seek support. Find a mental health counselor or join a support group. These resources can help you process negative feelings. You can also connect with others who are going through similar experiences.
A note from Cleveland Clinic
Sturge-Weber syndrome is a neurological disorder that occurs spontaneously. Most children born with SWS have a port-wine stain birthmark. Many also experience neurological symptoms such as seizures. SWS treatment focuses on managing symptoms. SWS may lead to developmental delays or intellectual disabilities. If you have Sturge-Weber syndrome, or have a child with the condition, it’s important to find treatment and support resources. With the right care, many people live a healthy life with Sturge-Weber syndrome.
Last reviewed by a Cleveland Clinic medical professional on 10/18/2021.
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