Klippel-Trénaunay syndrome


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Klippel-Trénaunay syndrome

[klipel′ trānōnā′]
Etymology: Maurice Klippel, French neurologist, 1858-1942; Paul Trénaunay, French physician, 20th century
a rare condition usually affecting one extremity, characterized by hypertrophy of the bone and related soft tissues, large cutaneous hemangiomas, persistent nevus flammeus, and skin varices.

Klippel-Trenaunay-Weber syndrome

A congenital disease (OMIM:149000) characterised by malformations of capillary (98% of patients), venous (72%) and lymphatic (11%) vessels, as well as bony and soft tissue hypertrophy, leading to large cutaneous haemangiomas with hypertrophy of the related bones and soft tissues.

Molecular pathology
Defects in AGGF1 on 5q13.3, which encodes a protein that promotes angiogenesis and endothelial cell proliferation, are a cause Klippel-Trenaunay syndrome. Other potential Klippel-Trenaunay-Weber syndrome gene loci have been identified at 8q22.3 and 14q13.