Klippel-Trenaunay syndrome (KTS) is a rare congenital condition. It causes a port-wine stain birthmark and problems with veins, bones or soft tissues.
Klippel-Trenaunay syndrome (KTS) is a rare congenital disorder. Congenital means it’s present at birth.
KTS causes a red “port-wine stain” birthmark. It also changes the way your soft tissues, bones and blood vessels develop. Many people with KTS also have abnormalities in their lymphatic system, which helps maintain fluid balance in the body.
Klippel-Trenaunay syndrome doesn’t have a cure, but treatment can help manage symptoms. Healthcare providers often identify and diagnose KTS shortly after a baby is born. Early diagnosis and treatment can reduce the risk of health complications related to KTS.
KTS gets its name from the two French doctors who discovered it, Maurice Klippel and Paul Trenaunay. They identified the syndrome in 1900.
KTS and Parkes Weber syndrome are different but related conditions. In the early 1900s, a dermatologist named Frederick Parkes Weber noticed that some people had an overly large limb with a distinctive birthmark.
At the time, researchers thought it was the same as KTS. They used to call KTS “Klippel-Weber-Trenaunay syndrome” after all three researchers.
Now we know that Parkes Weber syndrome is a different condition caused by a different gene change (mutation). It doesn’t cause lymphatic changes of KTS.
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Some providers use the abbreviation CLVM to refer to Klippel-Trenaunay syndrome. CLVM refers to the changes in your:
The M is for malformation, meaning a part of your body that hasn’t developed typically.
Experts estimate that KTS affects around 1 in 100,000 people around the world. It’s equally common in people assigned male at birth and people assigned female at birth.
KTS often occurs because of a change (mutation) in the PIK3CA gene. The gene change occurs sporadically (for no known reason). You don’t receive the gene from your parents.
Some people have KTS without having the PIK3CA mutation. Because of this, researchers think other gene mutations could also cause KTS.
Klippel-Trenaunay syndrome causes four main signs and symptoms:
KTS may cause complications such as:
Rarely, people with KTS also have congenital hand differences or toe differences, such as:
Healthcare providers initially diagnose KTS based on the physical signs. Because many KTS symptoms are present at birth, you or your baby may receive a diagnosis of KTS before leaving the hospital.
Tests for Klippel-Trenaunay syndrome may include:
Klippel-Trenaunay syndrome treatment varies based on symptoms. Treatment may include:
Because KTS happens unpredictably, there’s no way to prevent it. Treatment can help people with KTS live a higher quality of life.
No. There’s no cure for Klippel-Trenaunay syndrome, but treatment can help you manage symptoms.
The outlook for KTS can vary. People with the condition usually live a typical lifespan, but treatment is crucial. KTS can cause life-threatening complications, such as internal bleeding. Ongoing treatment with your healthcare provider can lower your risk of these complications.
If you or your child has KTS, you may also want to ask your healthcare provider:
KTS itself doesn’t affect life expectancy. But some KTS complications, such as internal bleeding or pulmonary embolism, can be life-threatening. Getting ongoing treatment for these risks can reduce the danger of these complications.
It can be. If KTS complications, such as deep vein thrombosis or pulmonary embolism, prevent you from working, you may qualify for disability benefits. For other issues, such as trouble walking due to limb growth, you may be eligible for accommodations such as a disability parking tag to make your life a little easier.
A note from Cleveland Clinic
Klippel-Trenaunay syndrome is a rare congenital disorder. Babies born with KTS typically have a port-wine stain birthmark, bone or soft tissue overgrowth and vein malformations. Healthcare providers often identify KTS early and may diagnose it before a newborn leaves the hospital. With treatment, most people with KTS can live a typical life.
Last reviewed by a Cleveland Clinic medical professional on 05/28/2022.
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