Sturge-Weber Syndrome
Sturge-Weber Syndrome
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Author: Dave Shahani, MD
Cook Children’s Medical Center, Fort Worth, TX 

 Reviewed: March 2022 


Sturge-Weber syndrome (SWS) is a rare genetic disorder related to the development of abnormal blood vessels. SWS can impact the brain, eyes, and face.  

The way that the disease develops is often unpredictable. It can get progressively worse with time. Each child with SWS has unique symptoms.


Disorder Overview


Neurocutaneous Disorders 

SWS is part of a group of disorders called “neurocutaneous disorders.” All disorders in this group affect the skin and the nervous system. They may also affect various other parts of the body.  

SWS and the Blood Vessels 

In a healthy nervous system, the blood vessels around the brain, the eyes, and the nerves develop normally. In SWS, however, abnormal blood vessels form in certain areas of an otherwise healthy nervous system. This can injure the brain and eyes over time.  

Some individuals with SWS may not show symptoms until later in life.  


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The main symptom of SWS is that abnormal blood vessels form in a child’s brain, eyes, and skin. Each child’s symptoms look different depending on the area of the brain or eyes affected.  

The severity of the disease can vary greatly from child to child. Some children live relatively normal lives with few symptoms. Other children have severe injury to the brain and eyes that gets worse over time. More severe versions of SWS can lead to:

  • Intellectual disability 
  • Seizures that are hard to control 
  • A loss of motor abilities 
  • A loss of vision 

The symptoms of SWS can change over time. This is because injury to the affected areas happens gradually. It does not take place all at once.  

Brain (Neurologic) Symptoms

Depending on the area of brain involved, patients can experience:

Seizures are seen in more than 70% of children with SWS. They are usually the first sign families notice. However, other symptoms can become more obvious over time as the disorder progresses.  

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Eye (Ophthalmologic) Symptoms

SWS can lead to several eye symptoms. However, the most common symptom affecting the eyes is an increase in pressure within the eye. This is known as glaucoma. Without treatment, this can lead to permanent vision loss.

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Skin (Dermatologic) Symptoms

A facial birthmark is often the first symptom that raises concern about SWS in particular. This birthmark is due to a difference in the formation of the small blood vessels (the capillaries) under the skin.  

The birthmark… 

  • …is not dangerous. 
  • …can be either large or small. 
  • …is usually described as red birth mark on the face. 
  • …often involves the skin around the eye.
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Mental Health

SWS is associated with a wide spectrum of psychological challenges, including:

  • Depression 
  • Anxiety 
  • Issues with self-esteem (due to the birth mark and other worsening symptoms) 

 Depending on the area of the brain affected, some patients also experience: 

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SWS is caused by a rare mutation in the GNAQ gene. The mutation is de novo, meaning that it is new in the child. It is not passed down from parents. Instead, it occurs randomly during the development of the embryo. About 1 in 50,000 children are born with this mutation. 

The GNAQ gene is a code of instructions that tells the body to make a protein called “guanine nucleotide-binding protein G(q) subunit alpha” (or “Gαq”). This protein is involved in the cell communication needed for the development and function of blood vessels.  

The mutation is not seen in the entire body. Instead, it appears in a smaller region of the developing embryo. It leads to the development of abnormal blood vessels in unique parts of the body, including the face, brain, and eyes.



Because the genetic mutation does not affect every cell in the body, genetic testing is not useful in diagnosing SWS. The genetic mutation is only found in the areas affected by the abnormal vessels.  

In addition, a child’s brain and eyes are not always affected early in life. There are two ways to learn if the brain is being affected by SWS:

  • Observing clinical symptoms. Certain symptoms can show if the brain is involved. These include: 
    • Seizures that occur in the first 2 years of life 
    • Weakness of one or more extremities 
    • Vision changes 
    • Delays in development 
  • Analyzing scans of the brain. A brain MRI (magnetic resonance image) can confirm clinical observations. However, the results may appear normal until about age 2, or even until the child develops neurologic symptoms. 

Biopsies are not routinely done. 

All children born with a facial birthmark around the eyes should be evaluated by an eye doctor. An annual examination of the eyes can show whether there is evidence of glaucoma.


Patients with SWS often benefit from care by a multidisciplinary team throughout life. This team might include:


Brain doctors can manage seizures, motor weakness, and intellectual disability.

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Eye doctors can evaluate and manage of glaucoma.

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Skin doctors can evaluate and manage the birthmark and future skin complications.

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Psychiatrists can evaluate and manage anxiety and depression.

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Psychologists can evaluate and manage mental health disorders and cognitive difficulties.

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Treatments are based on each child’s symptoms and how severe they are.  

Treating Neurologic Symptoms 

Treating these symptoms often requires a variety of approaches. They might include:

  • Treating seizures 
  • Treating headaches 
  • Preventing strokes 
  • Therapies for developmental delays affecting motor or language skills 
  • Treating learning difficulties 
  • Considering surgery on an affected area of the brain (this is helpful in some children only) 

Treating Eye Symptoms 

Eye symptoms such as glaucoma may require:

  • Medications 
  • Surgeries 

Treatment Skin Symptoms 

Treating a facial birthmark caused by SWS isn’t necessary. However, it may be desired for cosmetic reasons. The birthmark may get lighter with laser therapy. However, there can be complications if treatment is done incorrectly. It is important to discuss treating a birthmark with a dermatologist before using laser treatments.


It is not possible to outgrow SWS, but the future outcomes of SWS are highly variable from child to child. Some children live relatively normal lives. Meanwhile, others have severe disabilities affecting their health and independence.  

The severity of SWS is dependent on how much the brain and eyes have been affected. More severe SWS leads to more physical and cognitive difficulties for the child. Signs of more severe disease include: 

  • Early-onset seizures 
  • High seizure frequency 
  • Abnormalities on both sides of the brain 

SWS is a slowly progressive disease. The abnormal blood vessels cause gradual injury to the affected areas of the brain and eyes. This can take place over different amounts of time for different children. It is hard to predict how the disease will progress for each child.  

Each child with SWS is unique. No two cases are alike. Appropriate treatment is based on the type and level of symptoms. Therefore, children with SWS should be monitored closely by a team of medical specialists. Treatment can help children with SWS live a full life.


The Sturge-Weber Foundation 
The Sturge-Weber Foundation (The SWF) global mission is to improve the quality of life and care for people with Sturge-Weber syndrome and associated Port-Wine Birthmark conditions through tenacious collaboration with clinical partners and pioneers, education, advocacy, research, and friendly support. Since 1987 thousands of people have been served and continue to be served by the SWF’s one on one phone support, family networking program, education, physician referral service, medical education programs, and research endeavors. 

Sturge Weber UK 
The main and most important role of Sturge Weber UK is to provide support and information for people with Sturge-Weber syndrome and their families. They have been holding National Family Days since 2009. The next goals are to produce leaflets on all aspects of the syndrome and raise the profile of SWS amongst the medical profession and the non-medical community. This will help to ensure that children are given the appropriate treatment as early as possible. Sturge Weber UK’s website provides the latest news, literature, and general information about SWS. Sturge Weber UK also hosts a private Facebook group with over 100 members. 

 The Vascular Birthmarks Foundation  
The Vascular Birthmarks Foundation (VBF) is an international charitable organization that networks those affected by a vascular birthmark, anomaly, tumor, or syndrome to the appropriate medical professionals for evaluation and treatment. VBF also educates physicians and affected families regarding treatment options, supports relevant research, mobilizes medical missions, and empowers those living with vascular birthmarks. VBF also hosts the Vascular Birthmarks Foundation private Facebook group with almost 3,000 members worldwide. 

Pediatric Epilepsy Surgery Alliance
The Pediatric Epilepsy Surgery Alliance (formerly known as The Brain Recovery Project) enhances the lives of children who need neurosurgery to treat medication-resistant epilepsy. They empower families with research, support services, and impactful programs before, during, and after surgery. PESA’s programs include research-based, reliable information to help parents and caregivers understand when a child’s seizures are drug-resistant; the risks and dangers of seizures; the pros and cons of the various neurosurgeries to treat epilepsy; the medical, cognitive, and behavioral challenges a child may have throughout life; school, financial aid, and life care issues. PESA’s resources include a comprehensive website with downloadable guides, pre-recorded webinars, and virtual workshops; an informative YouTube channel with comprehensive information about epilepsy surgery and its effects; a private Facebook group (Education After Pediatric Epilepsy Surgery) with over 300 members; Power Hour (bi-monthly open forums and live virtual workshops on various topics); and free school training to help your child’s education team understand the impact of their epilepsy surgery in school. Their Peer Support Program will connect you with a parent who has been there. The Pediatric Epilepsy Surgery Alliance also hosts biennial family conferences and regional events that allow families to learn from experts, connect with other families, and form lifelong friendships. They also provide a travel scholarship of up to $1,000 to families in need to fund travel to a level 4 epilepsy center for a surgical evaluation.

In addition, PESA has resources for medical professionals to assist in helping clinicians help the parents of their patients find the resources they need after surgery. Educators and therapists will also find helpful resources and information, including videos, guides, and relevant research. Patients who have undergone surgery are encouraged to register with the Global Pediatric Epilepsy Surgery Registry to help set future research priorities.

Childhood Stroke 1

Child Neurology Foundation (CNF) solicits resources from the community to be included on this webpage through an application process. CNF reserves the right to remove entities at any time if information is deemed inappropriate or inconsistent with the mission, vision, and values of CNF. 

Research for Sturge-Weber Syndrome (birth to 17 years).

These are clinical trials that are recruiting or will be recruiting. Updates are made daily, so you are encouraged to check back frequently. is a database of privately and publicly funded clinical studies conducted around the world. This is a resource provided by the U.S. National Library of Medicine (NLM), which is an institute within the National Institutes of Health (NIH). Listing a study does not mean it has been evaluated by the U.S. Federal Government. Please read the NLM disclaimer for details.

Before participating in a study, you are encouraged to talk to your health care provider and learn about the risks and potential benefits.

Family Stories 

The Sturge-Weber Foundation shares a few of the amazing stories from Sturge-Weber syndrome patients and families on the Who We Are page! “Caring is Sharing” and these stories highlight the hope and impact of the progress that is being made in the Sturge-Weber community. 

The Vascular Birthmarks Foundation (VBF) launched the “More Than” project in 2021 to highlight that each person is MORE than their birthmark. The “More Than” project is an opportunity for you to share yours or your child’s “More Than” facts with VBF and the birthmark community. Currently, you can read about more than 100 people from around the world who have sent in their “More Than” facts. 

The information in the CNF Child Neurology Disorder Directory is not intended to provide diagnosis, treatment, or medical advice and should not be considered a substitute for advice from a healthcare professional. Content provided is for informational purposes only.  CNF is not responsible for actions taken based on the information included on this webpage. Please consult with a physician or other healthcare professional regarding any medical or health related diagnosis or treatment options. 


De la Torre AJ, Luat AF, Juhász C, Ho ML, Argersinger DP, Cavuoto KM, Enriquez-Algeciras M, Tikkanen S, North P, Burkhart CN, Chugani HT, Ball KL, Pinto AL, Loeb JA. A multidisciplinary consensus for clinical care and research needs for Sturge-Weber syndrome. Pediatr Neurol. 2018 Jul;84:11-20. Epub 2018 Apr 18. PMID: 29803545; PMCID: PMC6317878.

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