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Klippel-Trenaunay syndrome

Definition

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

Alternative Names

Klippel-Trenaunay-Weber syndrome; KTS; Angio-osteohypertrophy; Nevus varicosus osteohypertrophicus syndrome; Hemangiectasia hypertrophicans; Nevus verucosus hypertrophicans

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), possibly as an autosomal dominant trait.

Symptoms

  • Many port wine stains or other blood vessel problems, including dark spots on the skin.
  • Varicose veins (may be seen in early infancy, but are more likely to be seen later in childhood or adolescence)

Other possible symptoms:

  • Bleeding from the rectum
  • Blood in the urine

Exams and Tests

Persons 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:

Outlook (Prognosis)

Most individuals with Klippel-Trenaunay syndrome do well, despite their cosmetic appearance. However, there can be related psychological problems.

References

Garzon M, Huang J, Enjolras O, Frieden I. Vascular malformations. Part II: associated syndromes. J Am Acad Derm. 2007;56(4):541-564.

Review Date: 9/10/2010
Reviewed By: Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
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