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It is possible that the main title of the report Klippel-Trénaunay Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Klippel-Trénaunay syndrome (KTS) is a rare disorder that is present at birth (congenital) and is characterized by a triad of cutaneous capillary malformation ("port-wine stain"), lymphatic anomalies, and abnormal veins in association with variable overgrowth of soft tissue and bone. KTS occurs most frequently in the lower limb and less commonly in the upper extremity and trunk. KTS equally affects males and females.
The eponym KTS has generated controversy in the medical literature since the first report of the condition in the early 20th century. The French physicians, Klippel and Trénaunay, described patients with capillary stains (improperly called "hemangiomas" at that time), venous varicosities, and overgrowth. At about the same time, the English dermatologist Parkes Weber reported the combination of "hemangiomas" and overgrowth of a limb. For many years, the names of all three physicians were linked as a confusing (and incorrect) term "Klippel-Weber-Trénaunay syndrome," which still is (unfortunately) used to this day.
Since the latter 20th century, it is well-recognized that Parkes Weber and Klippel-Trénaunay syndromes are entirely different. Parkes Weber syndrome consists of fast-flow, multiple microscopic arteriovenous connections with variable capillary staining of an enlarged limb (usually the lower extremity). By genetic testing, many of these patients have a dominant, germline mutation in the gene RASA1.
In contrast, KTS is a slow-flow combined vascular disorder involving abnormal capillaries (C), lymphatics (L) and veins (V). Therefore, many investigators use the abbreviation CLVM, rather than KTS, and restrict the designation for patients who have all three vascular anomalies. Other authors apply the KTS term more broadly and include patients with only capillary stain (CM) or only capillary and venous anomalies (CVM) in the limb in the absence of lymphatic abnormalities.
Once the genetic cause for KTS is discovered, it will be possible to more precisely designate patients with these various combinations of vascular anomalies.
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Klippel-Trenaunay Support Group
1471 Greystone Lane
Milford, OH 45150
8 Silver Ave
Ontario, M6R 1X8
PO Box 241956
Los Angeles, CA 90024
National Organization of Vascular Anomalies
PO Box 38216
Greensboro, NC 27438-8216
4581 Magnolia Dr.
Suffolk, VA 23435
Venous Disease Coalition
1075 S. Yukon Street, Suite 320
Lakewood, CO 80226
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
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Last Updated: 7/12/2012
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