congenital vascular malformation Parkes Weber syndrome https://github.com/monarch-initiative/mondo/issues/9816 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. PWS MONDO:0700325 Orphanet:90307 OMIM merged its original "Parkes Weber syndrome" (PWS) entry (OMIM:608355) into 'capillary malformation-arteriovenous malformation 1' (CM-AVM1, MONDO:0020783, OMIM:608354); they mention that it is a specific type of CMAVM. However, PWS is a distinct clinical syndrome with documented genetic overlap with CM-AVM1 (RASA1; not all PWS cases are caused by variation in RASA1) and potentially CM-AVM2 (EPHB4). PWS patients present with distinctive clinical features: a large congenital cutaneous capillary malformation (port-wine stain) affecting an entire limb, combined with multiple micro-AVFs and excessive soft-tissue and skeletal overgrowth of that affected limb. This limb overgrowth—involving both bone and soft tissue—is the defining feature that distinguishes Parkes Weber syndrome from other CM-AVM1 presentations. [https://orcid.org/0000-0001-9310-0163, DOI:10.1097/JOVA.0000000000000076]