What is Klippel-Trenaunay Syndrome (KTS)?
Klippel-Trenaunay syndrome (KTS) is a rare congenital malformation involving blood and lymph vessels and abnormal growth of soft and bone tissue. Typical symptoms include hemangiomas (abnormal benign growths on the skinconsisting of masses of blood vessels) and varicose veins. Fused toes or fingers, or extra toes or fingers, may be present. In some cases, internal bleeding may occur as a result of blood vessel malformations involving organs such as the stomach, rectum, vagina, liver, spleen, bladder, kidneys, lungs, or heart. Individuals are also at risk for blood clots. The cause of the disorder is unknown. A similar port-wine stain disorder in which individuals have vascular anomalies on the face as well as in the brain is Sturge-Weber syndrome. These individuals may experience seizures and mental deficiency. In some cases, features of the Klippel-Trenaunay syndrome and Sturge-Weber syndrome coincide. Another overlapping condition is the Parkes-Weber syndrome, which is characterized by abnormal connectivity between the arterial and venous system (arteriovenous fistulas).
Is there any treatment?
What is the prognosis?
What is Klippel-Trenaunay syndrome?
Klippel-Trenaunay syndrome is a condition that affects the development of blood vessels, soft tissues, and bones. The disorder has three characteristic features: a red birthmark called a port-wine stain, abnormal overgrowth of soft tissues and bones, and vein malformations.
Most people with Klippel-Trenaunay syndrome are born with a port-wine stain. This type of birthmark is caused by swelling of small blood vessels near the surface of the skin. Port-wine stains are typically flat and can vary from pale pink to deep maroon in color. In people with Klippel-Trenaunay syndrome, the port-wine stain usually covers part of one limb. The affected area may become lighter or darker with age. Occasionally, port-wine stains develop small red blisters that break open and bleed easily.
Klippel-Trenaunay syndrome is also associated with overgrowth of bones and soft tissues beginning in infancy. Usually this abnormal growth is limited to one limb, most often one leg. However, overgrowth can also affect the arms or, rarely, the trunk. The abnormal growth can cause pain, a feeling of heaviness, and reduced movement in the affected area. If the overgrowth causes one leg to be longer than the other, it can also lead to problems with walking.
Malformations of veins are the third major feature of Klippel-Trenaunay syndrome. These abnormalities include varicose veins, which are swollen and twisted veins near the surface of the skin that often cause pain. Varicose veins usually occur on the sides of the upper legs and calves. Veins deep in the limbs can also be abnormal in people with Klippel-Trenaunay syndrome. Malformations of deep veins increase the risk of a type of clot called a deep vein thrombosis (DVT). If a DVT travels through the bloodstream and lodges in the lungs, it can cause a life-threatening clot known as a pulmonary embolism (PE).
Complications of Klippel-Trenaunay syndrome can include a type of skin infection called cellulitis, swelling caused by a buildup of fluid (lymphedema), and internal bleeding from abnormal blood vessels. Less commonly, this condition is also associated with fusion of certain fingers or toes (syndactyly) or the presence of extra digits (polydactyly).
How common is Klippel-Trenaunay syndrome?
Klippel-Trenaunay syndrome is estimated to affect at least 1 in 100,000 people worldwide.
What genes are related to Klippel-Trenaunay syndrome?
The cause of Klippel-Trenaunay syndrome is unknown. Researchers suspect that the condition may result from changes in one or more genes that regulate the growth of blood vessels during embryonic development. However, no associated genes have been identified. It is also unclear how blood vessel malformations are related to the overgrowth of bones and soft tissues.
How do people inherit Klippel-Trenaunay syndrome?
Klippel-Trenaunay syndrome is almost always sporadic, which means that it occurs in people with no history of the disorder in their family. Studies suggest that the condition may result from gene mutations that are not inherited. These genetic changes, which are called somatic mutations, probably occur very early in development and are present only in certain cells. Somatic mutations could explain why the signs and symptoms of Klippel-Trenaunay syndrome are often limited to specific areas of the body. However, it is unclear whether somatic mutations are responsible for this condition because no associated genes have been found.
Where can I find information about diagnosis or management of Klippel-Trenaunay syndrome?
These resources address the diagnosis or management of Klippel-Trenaunay syndrome and may include treatment providers.
- Children's Hospital
Boston - Cincinnati Children's Hospital Medical
Center - Cleveland
Clinic - Mayo
Clinic - Seattle Children's
Hospital
You might also find information on the diagnosis or management of Klippel-Trenaunay syndrome inEducational resources and Patient support.
To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.
Where can I find additional information about Klippel-Trenaunay syndrome?
You may find the following resources about Klippel-Trenaunay syndrome helpful. These materials are written for the general public.
- MedlinePlus - Health information (4 links)
- Genetic and Rare Diseases Information
Center - Information about genetic conditions and rare diseases - Additional NIH Resources - National Institutes of Health
- Educational resources - Information pages (9 links)
- Patient support - For patients and families (5 links)
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
ClinicalTrials.gov - Linking patients to medical researchPubMed - Recent literatureOMIM - Genetic disorder catalog
What other names do people use for Klippel-Trenaunay syndrome?
- angio-osteohypertrophy syndrome
- congenital dysplastic angiopathy
- Klippel-Trenaunay disease
- Klippel-Trenaunay-Weber syndrome
- KTS
- KTW syndrome
For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.
What if I still have specific questions about Klippel-Trenaunay syndrome?
Where can I find general information about genetic conditions?
The Handbook provides basic information about genetics in clear language.
- What does it mean if a disorder seems to run in my family?
- What are the different ways in which a genetic condition can be inherited?
- If a genetic disorder runs in my family, what are the chances that my children will have the condition?
- Why are some genetic conditions more common in particular ethnic groups?
These links provide additional genetics resources that may be useful.
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