Svensk definition
Ett sällsynt sjukdomstillstånd som oftast drabbar en lem och som kännetecknas av hypertrofi hos skelettbenet och tillhörande mjukvävnader, stora hemangiom i huden, ihållande nevus flammeus (eldsmärke) och hudvaricer.
Klippel-Trenaunay-Weber Syndrome
Klippel-Trenaunay-Webers syndrom
Engelsk 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.
Svenska synonymer
Inga svenska synonymer finns.
Engelska synonymer
Klippel Trenaunay Weber Syndrome — Syndrome, Klippel-Trenaunay-Weber — Angioosteohypertrophy Syndrome — Angioosteohypertrophy Syndromes — Syndrome, Angioosteohypertrophy — Syndromes, Angioosteohypertrophy — Congenital Dysplastic Angiopathy — Angiopathies, Congenital Dysplastic — Angiopathy, Congenital Dysplastic — Congenital Dysplastic Angiopathies — Dysplastic Angiopathies, Congenital — Dysplastic Angiopathy, Congenital — Klippel Trenaunay Syndrome — Syndrome, Klippel Trenaunay — Klippel-Trenaunay Syndrome — Klippel-Trenaunay Syndromes — Syndrome, Klippel-Trenaunay — Syndromes, Klippel-Trenaunay — Klippel-Trénaunay-Weber Syndrome — Klippel Trénaunay Weber Syndrome — Syndrome, Klippel-Trénaunay-Weber — KTW Syndrome — KTW Syndromes — Syndrome, KTW — Syndromes, KTW — Angio-Osteohypertrophy Syndrome — Angio Osteohypertrophy Syndrome — Angio-Osteohypertrophy Syndromes — Syndrome, Angio-Osteohypertrophy — Syndromes, Angio-Osteohypertrophy — Klippel-Trenaunay Disease — Disease, Klippel-Trenaunay — Klippel Trenaunay Disease