Other Names for this Disease
- Klippel Trenaunay syndrome
- Klippel-Trenaunay-Weber syndrome
- KTW syndrome
- Angio-osteohypertrophy syndrome
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port-wine stain; overgrowth of soft tissues and bones; and vein malformations such as varicose veins or malformations of deep veins in the limbs. The overgrowth of bones and soft tissues usually begins in infancy and is most often limited to one leg. However, it can also affect the arms or, rarely, the torso. The overgrowth can cause pain, a feeling of heaviness, and reduced movement in the affected area. The exact cause of KTS is unclear. It is thought to occur sporadically (in people with no family history of the condition), however several recent studies have found KTS may be caused by mutations in the PIK3CA gene . Treatment is symptomatic and supportive.Klippel-Trenaunay syndrome (KTS) 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
Last updated: 2/9/2016
- Klippel-Tranaunay Syndrome. Genetics Home Reference. July 2010; http://www.ghr.nlm.nih.gov/condition/klippel-trenaunay-syndrome.
- 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.
- 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.
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