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Genetic and Rare Diseases Information Center (GARD)

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Klippel-Trenaunay syndrome

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Other Names for this Disease

  • Angio-osteohypertrophy syndrome
  • Klippel Trenaunay syndrome
  • Klippel-Trenaunay-Weber syndrome
  • KTS
  • KTW syndrome
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

Klippel Trenaunay syndrome is a condition that affects the development of blood vessels, soft tissues, and bones. This condition has three characteristic features: a red birthmark called a port-wine stain, abnormal overgrowth of soft tissues and bones, and vein malformations. A port-wine stain is a type of birthmark caused by swelling of the small blood vessels near the surface of the skin. The overgrowth of bones and soft tissues usually begins in infancy and is most often limited to one leg. However, overgrowth can also affect the arms or, rarely, the trunk. The abnormal growth can cause pain, a feeling of heaviness, and reduced movement in the affected area. The vein malformations include varicose veins and malformations of deep veins in the limbs. The cause of Klippel-Trenaunay syndrome is unknown. This condition is almost always sporadic, which means that it occurs in people with no history of the disorder in their family.[1]
Last updated: 1/10/2012

References

  1. Klippel-Tranaunay Syndrome. Genetics Home Reference. July 2010; http://www.ghr.nlm.nih.gov/condition/klippel-trenaunay-syndrome. Accessed 1/10/2012.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Klippel-Trenaunay syndrome. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. 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.

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.
  • 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.
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    Orphanet
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Klippel-Trenaunay syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Angio-osteohypertrophy syndrome
  • Klippel Trenaunay syndrome
  • Klippel-Trenaunay-Weber syndrome
  • KTS
  • KTW syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.