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Diseases

Genetic and Rare Diseases Information Center (GARD)

Klippel-Trenaunay syndrome


Other Names for this Disease
  • Angio-osteohypertrophy syndrome
  • Angioosteohypertrophic syndrome
  • Klippel Trenaunay syndrome
  • Klippel-Trenaunay-Weber syndrome
  • Klippel-Trénaunay-Weber syndrome
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Cause

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What causes Klippel-Trenaunay syndrome?

The underlying cause of Klippel-Trenaunay syndrome (KTS) is currently unknown.[1] There have been many theories about what may cause this condition, including:
  • paradominant inheritance - a theory that may explain occasional familial cases of sporadic conditions. This theory proposes that a person may inherit a mutation in one copy of a gene responsible for a condition, but another, acquired mutation (somatic mutation) must occur in the other copy of the gene after conception for a person to develop signs and symptoms.
  • somatic mosaicism of an otherwise dominant lethal gene
  • disturbance of blood vessel formation (vasculogenesis) in the embryonic period
  • defects in the mesoderm (one of three layers of an embryo, which gives rise to structures including connective tissue, muscle, and bone)
  • various chromosomal translocations and mutations - there have been case reports of these, but none of them have been proven to have any definite association with the condition.[1]
Last updated: 4/21/2015

References
  1. Sharma D, Lamba S, Pandita A, Shastri S. Klippel-trénaunay syndrome - a very rare and interesting syndrome. Clin Med Insights Circ Respir Pulm Med. March 5, 2015; 9:1-4.


Other Names for this Disease
  • Angio-osteohypertrophy syndrome
  • Angioosteohypertrophic syndrome
  • Klippel Trenaunay syndrome
  • Klippel-Trenaunay-Weber syndrome
  • Klippel-Trénaunay-Weber 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.