Skip to content

    Children's Health

    Font Size
    A
    A
    A

    Sturge Weber Syndrome

    Important
    It is possible that the main title of the report Sturge Weber Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

    Synonyms

    • Dimitri Disease
    • Encephalofacial Angiomatosis
    • Encephalotrigeminal Angiomatosis
    • Leptomeningeal Angiomatosis
    • Sturge-Kalischer-Weber Syndrome
    • Sturge-Weber Phakomatosis
    • SWS
    • Sturge-Weber-Krabbe Syndrome

    Disorder Subdivisions

    • None

    General Discussion

    Summary
    Sturge-Weber syndrome (SWS) is a rare disorder characterized by the association of a facial birthmark called a port-wine birthmark, neurological abnormalities, and eye abnormalities such as glaucoma. SWS can be thought of as a spectrum of disease in which individuals may have abnormalities affecting all three of these systems (i.e. brain, skin and eyes), or only two, or only one. Consequently, the specific symptoms and severity of the disorder can vary dramatically from one person to another. Symptoms are usually present at birth (congenital), yet the disorder is not inherited and does not run in families. Some symptoms may not develop until adulthood. SWS is caused by a somatic mutation in the GNAQ gene. This mutation occurs randomly (sporadically) for no known reason.

    Introduction
    SWS may be classified as a neurocutaneous syndrome or one of the phakomatoses. Neurocutaneous syndromes or phakomatoses are broad terms for groups of disorders in which growths develop in the skin, brain, spinal cord, bones and sometimes other organs of the body. These growths consist of abnormal blood vessels.

    Some publications break down SWS into three main subtypes. Type 1 consists of skin and neurological symptoms. These individuals may or may not have glaucoma. Type 2 consists of skin symptoms and possibly glaucoma, but there is no evidence of neurological involvement. Type 3 consists of neurological involvement, but without skin abnormalities. Glaucoma is usually not present. Type 3 may also be known as the isolated neurological variant.

    Resources

    The Arc
    1825 K Street NW, Suite 1200
    Washington, DC 20006
    Tel: (202)534-3700
    Fax: (202)534-3731
    Tel: (800)433-5255
    TDD: (817)277-0553
    Email: info@thearc.org
    Internet: http://www.thearc.org

    Sturge-Weber Foundation
    P.O. Box 418
    Mt. Freedom, NJ 07970-0418
    Tel: (973)895-4445
    Fax: (973)895-4846
    Tel: (800)627-5482
    Email: swf@sturge-weber.org
    Internet: http://www.sturge-weber.org

    NIH/National Institute of Neurological Disorders and Stroke
    P.O. Box 5801
    Bethesda, MD 20824
    Tel: (301)496-5751
    Fax: (301)402-2186
    Tel: (800)352-9424
    TDD: (301)468-5981
    Internet: http://www.ninds.nih.gov/

    Vascular Birthmarks Foundation
    P.O. Box 106
    Latham, NY 12110
    USA
    Tel: (877)823-4646
    Email: hvbf@aol.com
    Internet: http://www.birthmark.org

    Sturge Weber Foundation (UK)
    Burleigh
    348 Pinhoe Rd
    Exeter
    Devon, EX4 8AF
    United Kingdom
    Tel: 01392464675
    Fax: 01392464675
    Email: support@sturgeweber.org.uk
    Internet: http://www.sturgeweber.org.uk

    Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg, MD 20898-8126
    Tel: (301)251-4925
    Fax: (301)251-4911
    Tel: (888)205-2311
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

    National Organization of Vascular Anomalies
    PO Box 38216
    Greensboro, NC 27438-8216
    Email: admin@mail.novanews.org
    Internet: http://www.novanews.org

    Hemispherectomy Foundation
    P.O. Box 1239
    Aledo, TX 76008
    Tel: (817)307-9880
    Email: info@hemifoundation.org
    Internet: http://www.hemifoundation.intuitwebsites.com/welcome.html

    Venous Disease Coalition
    1075 S. Yukon Street, Suite 320
    Suite 320
    Lakewood, CO 80226
    Tel: (303)989-0500
    Fax: (303)989-0200
    Tel: (888)833-4463
    Email: info@venousdiseasecoalition.org
    Internet: http://www.venousdiseasecoalition.org

    For a Complete Report:

    This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

    The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

    It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

    This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

    For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

    Last Updated: 4/21/2014
    Copyright 1986, 1987, 1988, 1989, 1991, 1993, 1996, 1997, 1998, 1999, 2002, 2005, 2006, 2014 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

    Today on WebMD

    child with red rash on cheeks
    What’s that rash?
    plate of fruit and veggies
    How healthy is your child’s diet?
     
    smiling baby
    Treating diarrhea, fever and more.
    Middle school band practice
    Understanding your child’s changing body.
     

    worried kid
    fitArticle
    jennifer aniston
    Slideshow
     
    Measles virus
    Article
    sick child
    Slideshow
     

    babyapp
    New
    Child with adhd
    Slideshow
     
    rl with friends
    fitSlideshow
    Child Coughing or Sneezing into Elbow
    Article