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.
- Dimitri Disease
- Encephalofacial Angiomatosis
- Encephalotrigeminal Angiomatosis
- Leptomeningeal Angiomatosis
- Sturge-Kalischer-Weber Syndrome
- Sturge-Weber Phakomatosis
- Sturge-Weber-Krabbe Syndrome
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.
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.
1825 K Street NW, Suite 1200
Washington, DC 20006
P.O. Box 418
Mt. Freedom, NJ 07970-0418
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
Vascular Birthmarks Foundation
P.O. Box 106
Latham, NY 12110
Sturge Weber Foundation (UK)
348 Pinhoe Rd
Devon, EX4 8AF
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
National Organization of Vascular Anomalies
PO Box 38216
Greensboro, NC 27438-8216
P.O. Box 1239
Aledo, TX 76008
Venous Disease Coalition
1075 S. Yukon Street, Suite 320
Lakewood, CO 80226
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 firstname.lastname@example.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.