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Genetic and Rare Diseases Information Center (GARD)

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Proteus syndrome


Other Names for this Disease

  • Hemihypertrophy and macrocephaly
  • Partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

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.[1] 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.[2]
Last updated: 9/28/2011

References

  1. Diagnostic criteria & facts. Proteus Syndrome Foundation. http://www.proteus-syndrome.org/proteus-syndrome/faqs/. Accessed 8/26/2011.
  2. Biesecker L. The challenges of Proteus syndrome: diagnosis and management. European Journal of Human Genetics. 2006; 14:1151-1157. http://www.nature.com/ejhg/journal/v14/n11/pdf/5201638a.pdf. Accessed 9/28/2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

2 question(s) from the public on Proteus syndrome have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • 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.
  • 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.
  • 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. This website is maintained by the National Library of Medicine.
  • 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.
  • The Proteus Syndrome Foundation Web site provides information on this syndrome. Click on the link to view the information page.

In Depth 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.
  • 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 Proteus syndrome. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Other Names for this Disease
  • Hemihypertrophy and macrocephaly
  • Partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.