Angio-osteohypertrophic syndrome (Q46712): Difference between revisions
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Síndrome angio-osteohipertrófica (AOH) é uma síndrome óssea vascular congênita caracterizada pela presença de malformações vasculares em um membro, resultando em crescimento excessivo do mesmo. A depender se as malformações são venosas de fluxo lento ou arteriovenosas de fluxo rápido, a síndrome pode ser dividida em dois subtipos, síndromes de Klippel-Trénaunay e Parkes-Weber, respectivamente. Alguns casos deste último estão associados a mutações no gene RASA1. | |||
| description / en | description / en | ||
Angio-osteohypertrophic (AOH) syndrome is a congenital vascular bone syndrome characterised by the presence of vascular malformations in a limb resulting in limb overgrowth. Depending on whether the malformations are slow flow venous or fast flow arteriovenous the syndrome may be divided into two subtypes, Klippel-Trénaunay and Parkes-Weber syndromes respectively. Some cases of the latter are associated with mutations in the RASA1 gene. | |||
Revision as of 15:29, 13 August 2026
Angio-osteohypertrophic (AOH) syndrome is a congenital vascular bone syndrome characterised by the presence of vascular malformations in a limb resulting in limb overgrowth. Depending on whether the malformations are slow flow venous or fast flow arteriovenous the syndrome may be divided into two subtypes, Klippel-Trénaunay and Parkes-Weber syndromes respectively. Some cases of the latter are associated with mutations in the RASA1 gene.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LD26.60 |
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| English | Angio-osteohypertrophic syndrome |
Angio-osteohypertrophic (AOH) syndrome is a congenital vascular bone syndrome characterised by the presence of vascular malformations in a limb resulting in limb overgrowth. Depending on whether the malformations are slow flow venous or fast flow arteriovenous the syndrome may be divided into two subtypes, Klippel-Trénaunay and Parkes-Weber syndromes respectively. Some cases of the latter are associated with mutations in the RASA1 gene. |
