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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The underlying cause of Klippel-Trenaunay syndrome (KTS) is currently unknown. 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.
Last updated: 4/21/2015