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Sturge-Weber syndrome


Other Names for this Disease
  • Encephalofacial angiomatosis
  • Encephalotrigeminal angiomatosis
  • Fourth phacomatosis
  • Leptomeningeal angiomatosis
  • Meningeal capillary angiomatosis
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Overview

Sturge-Weber syndrome is a rare disorder that is present at birth. Affected individuals have a large 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.[1]
Last updated: 10/16/2013

References

  1. 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.
  2. Jasmin L. Sturge-Weber syndrome. Medline Plus. October 14, 2009; http://www.nlm.nih.gov/medlineplus/ency/article/001426.htm. Accessed 4/18/2010.
  3. 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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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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.
Other Names for this Disease
  • Encephalofacial angiomatosis
  • Encephalotrigeminal angiomatosis
  • Fourth phacomatosis
  • Leptomeningeal angiomatosis
  • Meningeal capillary angiomatosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.