Klippel-Trénaunay syndrome
Name: |
Klippel-Trénaunay syndrome
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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.
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ORPHAcode: |
90308
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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