Klippel-trenaunay-weber syndrome

Klippel-Trenaunay-Weber Syndrome (KTWS) is a rare congenital vascular disorder characterized by a triad of symptoms: Port-wine stain (a type of birthmark), Varicose veins and hypertrophy of bones and soft tissues. The syndrome was first described by French physicians Maurice Klippel and Paul Trenaunay in 1900, and later associated with Frederick Parkes Weber in 1907.

Symptoms and Signs

The most common symptoms of Klippel-Trenaunay-Weber Syndrome include Port-wine stain, Varicose veins, and hypertrophy of bones and soft tissues. The port-wine stain, also known as a capillary malformation, is usually present at birth and typically affects one limb. Varicose veins are often present at birth but may also develop during childhood. Hypertrophy, or overgrowth, of bones and soft tissues can lead to a larger and longer limb.

Causes

The exact cause of Klippel-Trenaunay-Weber Syndrome is unknown. However, it is believed to be due to a somatic mutation that occurs during embryonic development. This mutation is not inherited from the parents but occurs randomly.

Diagnosis

Diagnosis of Klippel-Trenaunay-Weber Syndrome is typically based on the physical symptoms present at birth or early childhood. Imaging tests such as MRI or Ultrasound may be used to confirm the diagnosis and assess the extent of the condition.

Treatment

Treatment for Klippel-Trenaunay-Weber Syndrome is symptomatic and supportive. It may include compression stockings to manage varicose veins, laser therapy to lighten or remove port-wine stains, and surgery to correct bone and soft tissue overgrowth. Regular monitoring is necessary to manage potential complications.

See Also

• Parkes Weber syndrome
• Sturge-Weber syndrome
• Phakomatosis pigmentovascularis

NIH genetic and rare disease info

• NIH info on Klippel-trenaunay-weber syndrome

Klippel-trenaunay-weber syndrome is a rare disease.

Klippel-trenaunay-weber syndrome Resources
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