Klippel-Trenaunay-Weber Syndrome

**Definition:** A congenital disorder that is characterized by a triad of capillary malformations (HEMANGIOMA), venous malformations (ARTERIOVENOUS FISTULA), and soft tissue or bony hypertrophy of the limb. This syndrome is caused by mutations in the VG5Q gene which encodes a strong angiogenesis stimulator.

**Tree numbers:** - C14.907.077.410

**Synonyms:** - Angioosteohypertrophy Syndrome - Congenital Dysplastic Angiopathy - Klippel Trenaunay Syndrome - Angio-Osteohypertrophy Syndrome - Klippel-Trenaunay Syndrome - Klippel-Trénaunay-Weber Syndrome - KTW Syndrome - Klippel-Trenaunay Disease