Klippel-Trenaunay syndrome

From Ganfyd

Jump to: navigation, search

Klippel-Trénaunay syndrome (Klippel-Trenaunay-Weber syndrome, KTW syndrome, angioosteohypertrophy syndrome, naevus varicosus osteohypertrophicus) is a heterogeneous congenital circulatory disorder with some cases caused by mutations at 8q22.3. It is manifest by vascular anomalies. It is characterised by the triad of:

  1. Port-wine stains
  2. Venous varicosities
  3. Soft tissue/bone hypertrophy.


Described by Klippel and Trenaunay in 1900, with Parkes and Weber describing a similar case in 1907[1].