Klippel-Trenaunay syndrome is a rare birth defect (congenital) resulting into an abnormal development of blood vessels, soft tissues, bones or the lymphatic system. Under rare conditions, fusion of fingers or toes or formation of extra fingers or toes, may also occur. The disorder can be characterized by three main features: a reddish - purple birthmark called a port-wine stain, abnormal growth of soft tissues and bones, and vein malformations.
These birthmarks occur due to swelling of small blood vessels near the surface of the skin. Port-wine stains are usually flat and can vary from pale pink to deep maroon in color. The port-wine stains usually covers a part of one limb. The affected area may become lighter or darker with age.
The disease might be accompanied by malformations of deep veins which increase the risk of a type of clot called deep vein thrombosis (DVT). If DVT travels through the bloodstream and lodges into the lungs, it can cause a life-threatening clot known as a pulmonary embolism (PE).