Klippel-Trénaunay-Weber Syndrome synonyms

Klippel-Trénaunay-Weber Syndrome, also known as KTS or Klippel-Trénaunay Syndrome, is a rare congenital disorder characterized by a triad of symptoms including port-wine stain birthmarks, varicose veins, and soft tissue and bone overgrowth. This condition primarily affects the blood vessels, skin, and bones, and it is typically present at birth or becomes apparent during early childhood.

The port-wine stain birthmarks associated with Klippel-Trénaunay-Weber Syndrome are typically large, flat, and pink or red in color. They are caused by abnormal blood vessels near the surface of the skin. These birthmarks can be found anywhere on the body but are most commonly seen on the legs or face. In some cases, they may darken or thicken over time.

Varicose veins are another common feature of this syndrome. These are enlarged, twisted veins that may be visible just beneath the skin. Varicose veins can cause discomfort, pain, and swelling, and they may increase the risk of blood clots or ulcers.

The soft tissue and bone overgrowth associated with Klippel-Trénaunay-Weber Syndrome can lead to an abnormal growth of muscles, fat, and bones. This overgrowth can cause one limb to be larger or longer than the other, resulting in a noticeable size difference. It may also lead to joint stiffness, limited mobility, and an increased risk of fractures.

Other less common symptoms of Klippel-Trénaunay-Weber Syndrome may include lymphatic abnormalities such as lymphedema (swelling due to impaired lymphatic drainage), abnormalities of the gastrointestinal tract such as bleeding or malformations, and abnormalities of the genitourinary system such as kidney or bladder malformations.

Klippel-Trénaunay-Weber Syndrome is a lifelong condition that requires multidisciplinary management. Treatment options focus on managing symptoms and may include laser therapy for birthmark reduction, compression garments or stockings to alleviate swelling and improve blood flow, surgical interventions to address complications like varicose veins or overgrowth, and physical therapy to improve mobility and joint function.