Other Names for this Disease
- Encephalofacial angiomatosis
- Encephalotrigeminal angiomatosis
- Fourth phacomatosis
- Leptomeningeal angiomatosis
- Meningeal capillary angiomatosis
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 Brain Vascular Malformation Consortium has information and frequently asked questions about Sturge-Weber syndrome for patients and their families.
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- 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.