" /> Parkes-Weber syndrome - CISMeF





Preferred Label : Parkes-Weber syndrome;

ICD-11 definition : Parkes-Weber syndrome (OMIM 608355) is characterized 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.;

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Parkes-Weber syndrome (OMIM 608355) is characterized 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.

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08/05/2025


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