Symptoms

People who have Klippel-Trenaunay syndrome may have the following features, which can range from mild to more extensive:

• Port-wine stain. This pink to reddish-purple birthmark is caused by extra tiny blood vessels (capillaries) in the top layer of skin. The birthmark usually covers part of one leg, but can involve any portion of the skin, and may get darker or lighter with age.
• Vein malformations. These include swollen, twisted veins (varicose veins) usually on the surface of the legs. Deeper abnormal veins in the arms, legs, abdomen and pelvis can occur. There may be spongy tissue filled with small veins in or under the skin. Venous abnormalities may become more prominent with age.
• Overgrowth of bones and soft tissue. This begins in infancy and is usually limited to one leg, but it can occur in an arm or, rarely, in the trunk or face. This overgrowth of bone and tissue creates a larger and longer extremity. Rarely, fusion of fingers or toes, or having extra fingers or toes occurs.
• Lymphatic system abnormalities. The lymphatic system — part of the immune system that protects against infection and disease and transports lymphatic fluid — can be abnormal. Extra lymphatic vessels can be present that don't work properly and can lead to leakage and swelling.
• Other conditions. KTS can also include cataracts, glaucoma, hip dislocation at birth and blood-clotting problems.

When to see a doctor

Klippel-Trenaunay syndrome is usually identified at birth. It's important to get a prompt, accurate diagnosis and appropriate care to treat symptoms and prevent complications.