Klippel-Trenaunay syndrome

Klippel-Trenaunay syndrome is a rare condition that is typically present at birth. The syndrome often involves port wine stains, excess growth of bones and soft tissue, and varicose veins.

Causes

Most cases of Klippel-Trenaunay syndrome occur for no apparent reason. However, a few cases are thought to be passed down through families (inherited).

Symptoms

Symptoms of Klippel-Trenaunay syndrome include:

• Many port wine stains or other blood vessel problems, including dark spots on the skin

  Port wine stains

  A port-wine stain is a birthmark in which swollen blood vessels create a reddish-purplish discoloration of the skin.

   

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• Varicose veins (may be seen in early infancy, but are more likely to be seen later in childhood or adolescence)

  Varicose veins

  Varicose veins are swollen, twisted, and enlarged veins that you can see under the skin. They are often red or blue in color. They most often appea...

   

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Other possible symptoms:

• Bleeding from the rectum
• Blood in the urine

Exams and Tests

People with this condition may have excessive growth of bones and soft tissue. This occurs most commonly in the legs, but it also may affect the arms, face, head, or internal organs.

Support Groups

It may be helpful to join a support group in which members share common problems and concerns.

The following organizations provide further information on Klippel-Trenaunay syndrome:

• The Klippel-Trenaunay Syndrome Support Group -- www.k-t.org
• Vascular Birthmarks Foundation -- www.birthmark.org

Outlook (Prognosis)

Most people with Klippel-Trenaunay syndrome do well, although the condition may affect their appearance. Some people have psychological problems from the condition.

There can sometimes be abnormal blood vessels in the abdomen, which may need to be evaluated.