BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuSturge-Weber syndromeEncephalotrigeminal angiomatosis; SWSSturge-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 mutation 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.Port-wine stainsA port-wine stain is a birthmark in which swollen blood vessels create a reddish-purplish discoloration of the skin.ImageRead Article Now Book Mark Article 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 eye-lid than the rest of the body) Seizures SeizuresA seizure is the physical changes in behavior that occurs during an episode of specific types of abnormal electrical activity in the brain. The term ...ImageRead Article Now Book Mark Article Headache Paralysis or weakness on one side ParalysisMuscle function loss is when a muscle does not work or move normally. The medical term for complete loss of muscle function is paralysis.ImageRead Article Now Book Mark Article Learning disabilities Glaucoma (very high fluid pressure in the eye) Low thyroid (hypothyroidism) HypothyroidismHypothyroidism is a condition in which the thyroid gland does not make enough thyroid hormone. This condition is often called underactive thyroid....ImageRead Article Now Book Mark Article Exams and Tests The health care provider should check all birthmarks, including a port-wine stain.Glaucoma may be one sign of the condition.GlaucomaGlaucoma is a group of eye conditions that can damage the optic nerve. This nerve sends the images you see to your brain. Most often, optic nerve da...ImageRead Article Now Book Mark Article Tests may include:CT scan CT scanA computed tomography (CT) scan is an imaging method that uses x-rays to create pictures of cross-sections of the body. Related tests include:Abdomin...ImageRead Article Now Book Mark Article MRI scan MRI scanA 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...ImageRead Article Now Book Mark Article 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 therapyLaser 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...ImageRead Article Now Book Mark Article 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 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 ReferencesReferencesDinulos 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 A. Neurocutaneous syndromes. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 614.AllVideoImagesTogSturge-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 feetillustrationSturge-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 - legsillustrationPort 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 faceillustrationSturge-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 feetillustrationSturge-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 - legsillustrationPort 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 faceillustrationRelated Information Glaucoma(Condition)Tonometry(Medical Test)Blindness and vision loss(Symptoms)Seizures(Symptoms)Muscle function loss(Symptoms)Glaucoma - InDepth(In-Depth) Review Date: 11/1/2021 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 Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. 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Sturge-Weber syndromeEncephalotrigeminal angiomatosis; SWSSturge-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 mutation 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.Port-wine stainsA port-wine stain is a birthmark in which swollen blood vessels create a reddish-purplish discoloration of the skin.ImageRead Article Now Book Mark Article 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 eye-lid than the rest of the body) Seizures SeizuresA seizure is the physical changes in behavior that occurs during an episode of specific types of abnormal electrical activity in the brain. The term ...ImageRead Article Now Book Mark Article Headache Paralysis or weakness on one side ParalysisMuscle function loss is when a muscle does not work or move normally. The medical term for complete loss of muscle function is paralysis.ImageRead Article Now Book Mark Article Learning disabilities Glaucoma (very high fluid pressure in the eye) Low thyroid (hypothyroidism) HypothyroidismHypothyroidism is a condition in which the thyroid gland does not make enough thyroid hormone. This condition is often called underactive thyroid....ImageRead Article Now Book Mark Article Exams and Tests The health care provider should check all birthmarks, including a port-wine stain.Glaucoma may be one sign of the condition.GlaucomaGlaucoma is a group of eye conditions that can damage the optic nerve. This nerve sends the images you see to your brain. Most often, optic nerve da...ImageRead Article Now Book Mark Article Tests may include:CT scan CT scanA computed tomography (CT) scan is an imaging method that uses x-rays to create pictures of cross-sections of the body. Related tests include:Abdomin...ImageRead Article Now Book Mark Article MRI scan MRI scanA 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...ImageRead Article Now Book Mark Article 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 therapyLaser 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...ImageRead Article Now Book Mark Article 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 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 ReferencesReferencesDinulos 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 A. Neurocutaneous syndromes. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 614.