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Genetic and Rare Diseases Information Center (GARD)

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Klippel-Trenaunay syndrome

Other Names for this Disease
  • Angio-osteohypertrophy syndrome
  • Klippel Trenaunay syndrome
  • Klippel-Trenaunay-Weber syndrome
  • KTS
  • KTW syndrome
More Names
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Your Question

How does Klippel Trenaunay syndrome (KTS) occur? How, if it is not inherited, does it come about? Which gene is associated with it? 

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What causes Klippel Trenaunay syndrome (KTS)?

The cause of KTS is unknown. Evidence shows that it 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

If Klippel Trenaunay syndrome (KTS) is not inherited, how does it come about?

Studies suggest that KTS may result from gene mutations that are not inherited. These genetic changes, which are called somatic mutations, probably occur very early in development and are present only in certain cells. Somatic mutations could explain why the signs and symptoms of KTS are often limited to specific areas of the body.[1]
Last updated: 1/10/2012

Which gene is associated with Klippel Trenaunay syndrome (KTS)?

Researchers suspect that KTS may result from changes in one or more genes that regulate the growth of blood vessels during embryonic development. However, to date, no associated genes have been identified.[1]
Last updated: 1/10/2012