Other Names for this Disease
- Sturge Weber syndrome
- Encephalotrigeminal angiomatosis
- Fourth phacomatosis
- Meningeal capillary angiomatosis
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port-wine stain birthmark on their face, which is caused by blood vessel abnormalities. People with Sturge-Weber syndrome also develop blood vessel abnormalities in the brain called leptomeningeal angiomas. Other features of this syndrome include glaucoma, seizures, muscle weakness, paralysis, developmental delay, and intellectual disability. Sturge-Weber syndrome is caused by a mutation in the GNAQ gene. The gene mutation is not inherited, but occurs by chance in cells of the developing embryo.Sturge-Weber syndrome is a rare disorder that is present at birth. Affected individuals have a large
Last updated: 10/16/2013
- Shirley MD, Tang H, Gallione CJ, Baugher JD, Frelin LP, Cohen B, North PE, Marchuk DA, Comi AM, Pevsner J. Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med. 2013;368(21):1971; http://www.ncbi.nlm.nih.gov/pubmed/23656586. Accessed 10/16/2013.
- Jasmin L. Sturge-Weber syndrome. Medline Plus. October 14, 2009; http://www.nlm.nih.gov/medlineplus/ency/article/001426.htm. Accessed 4/18/2010.
- NINDS Sturge-Weber Syndrome Information Page. National Institute of Neurological Disorders and Stroke. February 14, 2007; http://www.ninds.nih.gov/disorders/sturge_weber/sturge_weber.htm. Accessed 4/13/2010.
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- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The Brain Vascular Malformation Consortium has information and frequently asked questions about Sturge-Weber syndrome for patients and their families.
Learn More About Sturge-Weber Syndrome (SWS)
Frequently Asked Questions About SWS
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- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Sturge-Weber syndrome. Click on the link to view a sample search on this topic.