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Parkes Weber syndrome

ORPHA:90307· ICD-10 Q87.2

Definition

A rare congenital complex vascular malformation syndrome characterized by overgrowth of a limb (most commonly a leg) involving bones and soft tissue, in association with capillary malformations usually in the form of port-wine stains and multiple arteriovenous fistulas with high-flow arteriovenous shunting. The latter can also lead to other severe complications including abnormal bleeding and heart failure. Lymphatic malformations may also be present.

Prevalence
Unknown
Inheritance
Autosomal dominant, Not applicable
Age of onset
Infancy, Neonatal