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Klippel–Trénaunay syndrome, formerly Klippel–Trénaunay–Weber syndrome [1] and sometimes angioosteohypertrophy syndrome and hemangiectatic hypertrophy, [2] is a rare congenital medical condition in which blood vessels and/or lymph vessels fail to form properly.
PIK3CA gene codes for p110α protein which is a catalytic subunit of phosphoinositide 3-kinase, a major regulator of several important cellular functions such as cell proliferation, growth and apoptosis. [4]
Children with some overgrowth syndromes such as Klippel–Trénaunay syndrome can be readily detectable at birth. [3] In contrast, other overgrowth syndromes such as Proteus syndrome usually present in the postnatal period, characteristically between the second and third year of life. [ 2 ]
PWS is often confused with Klippel–Trénaunay syndrome (KTS). These two diseases are similar, but they are distinct. PWS occurs because of vascular malformation that may or may not be because of genetic mutations, whereas Klippel-Trénaunay syndrome is a condition in which blood vessels and or lymph vessels do not form properly. [7]
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Maurice Klippel (30 May 1858 – 20 July 1942) was a French physician, for whom the conditions Klippel–Feil syndrome and Klippel–Trénaunay–Weber syndrome are named. He was born in Mulhouse , Haut-Rhin and studied medicine in Paris , earning his doctorate in 1889.
The VACTERL association (also VATER association, and less accurately VACTERL syndrome) refers to a recognized group of birth defects which tend to co-occur (see below). This pattern is a recognized association, as opposed to a syndrome , because there is no known pathogenetic cause to explain the grouped incidence.
CLOVES syndrome is closely linked to other overgrowth disorders like proteus syndrome, Klippel–Trénaunay syndrome, Sturge–Weber syndrome, and hemihypertrophy, to name a few. 'CLOVES' is an acronym for: [2] [3] C is for congenital. L is for lipomatous, which means pertaining to or resembling a benign tumor made up of mature fat cells. Most ...