Parkes-Weber syndrome (Q93478): Difference between revisions
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A síndrome de Parkes-Weber (OMIM 608355) é caracterizada por uma ou mais malformações capilares cutâneas associadas a múltiplas malformações microarteriovenosas subjacentes e hipertrofia esquelética e de tecidos moles do membro afetado. Casos em que existem múltiplas malformações capilares foram identificados como tendo uma mutação no gene RASA1. Difere da síndrome de Klippel-Trénaunay, na qual as malformações vasculares são de fluxo lento e não há associação com o gene RASA1. | |||
| description / en | description / en | ||
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. | |||
Revision as of 08:34, 16 August 2026
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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1412478956 |
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| English | Parkes-Weber syndrome |
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. |
