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.
Also Known As:
Syndrome, Klippel-Trenaunay-Weber; Angio-Osteohypertrophy Syndrome; Angioosteohypertrophy Syndrome; Congenital Dysplastic Angiopathy; KTW Syndrome; Klippel Trenaunay Syndrome; Klippel-Trenaunay Syndrome; Klippel-Trénaunay-Weber Syndrome; Angio Osteohypertrophy Syndrome; Angio-Osteohypertrophy Syndromes; Angioosteohypertrophy Syndromes; Angiopathies, Congenital Dysplastic; Angiopathy, Congenital Dysplastic; Congenital Dysplastic Angiopathies; Disease, Klippel-Trenaunay; Dysplastic Angiopathies, Congenital; Dysplastic Angiopathy, Congenital; KTW Syndromes; Klippel Trenaunay Disease; Klippel Trenaunay Weber Syndrome; Klippel Trénaunay Weber Syndrome; Klippel-Trenaunay Syndromes; Syndrome, Angio-Osteohypertrophy; Syndrome, Angioosteohypertrophy; Syndrome, KTW; Syndrome, Klippel Trenaunay; Syndrome, Klippel-Trenaunay; Syndrome, Klippel-Trénaunay-Weber; Syndromes, Angio-Osteohypertrophy; Syndromes, Angioosteohypertrophy; Syndromes, KTW; Syndromes, Klippel-Trenaunay; Klippel-Trenaunay Disease