Klippel–Trénaunay–Weber syndrome

Klippel–Trénaunay–Weber syndrome (KTWS) is a rare congenital medical condition characterized by port-wine stains, excess growth of bones and soft tissues, and varicose veins. The syndrome is named after the French physicians Maurice Klippel and Paul Trénaunay, and the British physician Frederick Parkes Weber who first described it.

Symptoms and Signs

The most common symptoms of Klippel–Trénaunay–Weber syndrome include port-wine stains (a type of birthmark that looks like a splash of wine), varicose veins (swollen, twisted veins that you can see just under the surface of the skin), and hypertrophy of bones and soft tissues (overgrowth of bones and soft tissues). These symptoms usually appear at birth or in early childhood.

Causes

The exact cause of Klippel–Trénaunay–Weber syndrome is unknown. However, it is believed to be caused by mutations in the PIK3CA gene. This gene provides instructions for making a protein that is involved in signaling pathways controlling cell growth and division.

Diagnosis

Diagnosis of Klippel–Trénaunay–Weber syndrome is usually based on the physical symptoms. Medical imaging techniques such as MRI (Magnetic Resonance Imaging) or ultrasound may be used to confirm the diagnosis.

Treatment

There is no cure for Klippel–Trénaunay–Weber syndrome. Treatment is focused on managing the symptoms and preventing complications. This may include compression garments for varicose veins, laser therapy for port-wine stains, and surgery for severe cases of bone and soft tissue overgrowth.

See Also

• Parkes Weber syndrome
• Sturge-Weber syndrome
• Congenital disorders
• Genetic disorders

NIH genetic and rare disease info

• NIH info on Klippel–Trénaunay–Weber syndrome

Klippel–Trénaunay–Weber syndrome is a rare disease.

Klippel–Trénaunay–Weber syndrome Resources
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