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Diseases

Genetic and Rare Diseases Information Center (GARD)

Klippel-Trenaunay syndrome


Other Names for this Disease
  • Klippel Trenaunay syndrome
  • Klippel-Trenaunay-Weber syndrome
  • KTW syndrome
  • Weber-Klippel-Trenaunay
  • Angio-osteohypertrophy 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]
However recently, medical researchers have found multiple cases of KTS associated with mutations in the PIK3CA gene.[2][3]  Some researchers believe all KTS is likely caused by mutations in this gene and when a mutation cannot be found, the affected person may actually have a different condition such as Beckwith-Wiedemann syndrome.[2]  More research studies will need to be completed to reach a consensus among medical researchers. 
Last updated: 2/9/2016

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.
  2. Luks VL, Kamitaki N, Vivero MP, Uller W, Rab R, Bovée JV, Rialon KL, Guevara CJ, Alomari AI, Greene AK, Fishman SJ, Kozakewich HP, Maclellan RA, Mulliken JB, Rahbar R, Spencer SA, Trenor CC 3rd, Upton J, Zurakowski D, Perkins JA, Kirsh A, Bennett JT, Dobyns WB, Kurek KC, Warman ML, McCarroll SA, and Murillo R. Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA. Journal of Pediatrics. April 2015; 166(4):1048-54. http://www.ncbi.nlm.nih.gov/pubmed/25681199.
  3. Vahidnezhad H, Youssefian L, and Uitto J. Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS). Experimental Dermatology. Januaray 2016; 25(1):17-19. http://www.ncbi.nlm.nih.gov/pubmed/26268729.


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