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Other Names for this Disease
- Hemihypertrophy and macrocephaly
- Partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly
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Proteus syndrome is characterized by excessive growth of a part or portion of the body. The overgrowth can cause differences in appearance and with time, an increased risk for blood clots and tumors. It is caused by a change (mutation) in the AKT1 gene. It is not inherited, but occurs as a random mutation in a body cell in a developing baby (fetus) early in pregnancy. The AKT1 gene mutation affects only a portion of the body cells. This is why only a portion of the body is affected and why individuals with Proteus syndrome can be very differently affected. Management of the condition often requires a team of specialists with knowledge of the wide array of features and complications of this condition.
- Diagnostic criteria & facts. Proteus Syndrome Foundation. http://www.proteus-syndrome.org/proteus-syndrome/faqs/. Accessed August 26, 2011.
- Biesecker L. The challenges of Proteus syndrome: diagnosis and management. European Journal of Human Genetics. 2006. http://www.nature.com/ejhg/journal/v14/n11/pdf/5201638a.pdf. Accessed September 28, 2011.
- The American Society for Surgery of the Hand provides information on congenital differences of the hand. Click on American Society for Surgery of the Hand to view the information page.
- The Children’s Hospital Boston has a information page on congenital limb defects. Click on the link above to view this information page.
- The New Zealand Dermatolgical Society's Web site has information on Proteus syndrome. Click on the link above to view this information page.
- Genetics Home Reference (GHR) contains information on Proteus syndrome. Click on the link to go to GHR and review the information.
- Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
- MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- The Proteus Syndrome Foundation Web site provides information on this syndrome. Click on the link to view the information page.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Proteus syndrome. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Proteus syndrome. Click on the link to go to OMIM and review these resources.
Selected Full-Text Journal Articles
- Gitlin J. (2011). Proteus: Discovering the tiniest disease-causing flaws — and improving sequencing technologies. National Human Genome Research Institute. Web site: http://www.genome.gov/27544998
- Lindhurst MJ, Sapp JC, Biesecker LG. et al. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med. 2011 Aug 18;365(7):611-9. Epub 2011 Jul 27.
- Biesecker L. The challenges of Proteus syndrome: diagnosis and management. European Journal of Human Genetics. 2006; 14: 1151–1157.
- Contact a Family is a UK-wide charity providing advice, information and support to individuals affected by various health conditions. They enable parents, families, and individuals to get in contact with others, on a local, national, and international basis. Each year they reach at least 275,000 families. Click on Contact a Family to view their information on Proteus syndrome.