Catalog

Parkes-Weber syndrome

No MMS code

Link to WHO Definition

Parkes-Weber syndrome – http://id.who.int/icd/entity/1412478956

Parkes-Weber syndrome (OMIM 608355) is characterised by one or more cutaneous capillary malformations associated with underlying multiple micro-arteriovenous malformations and soft tissue and skeletal hypertrophy of the affected limb. Cases in which the there are multiple capillary malformations have been found to have a mutation in the RASA1 gene. It differs from Klippel-Trénaunay syndrome in which the vascular malformations are slow flow and there is no association with the RASA1 gene.