Klippel-Trénaunay syndrome

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Name:
Klippel-Trénaunay syndrome
Description:
A rare congenital complex vascular malformation syndrome characterized by capillary malformations manifesting as port-wine stains and venous varicosities typically prominent along the lateral aspect of the lower extremities, associated with overgrowth of a limb (most commonly a leg), more rarely other regions of the body, involving bone and/or soft tissue. The diagnosis is usually made when at least 2 of these 3 features exist. Lymphatic malformations are also observed, while arteriovenous fistulas are absent. Patients present recurrent painful thrombophlebitis, venous thrombosis, and sudden venous hemorrhage.
ORPHAcode:
90308
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Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14