Short rib-polydactyly syndrome (Q46596): Difference between revisions
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As síndromes de costela curta-polidactilia são um grupo de malformações ósseas caracterizadas por um tórax estreito e polidactilia (geralmente pré-axial). A prevalência como grupo é desconhecida. O grupo é heterogêneo e inclui a síndrome de Jeune e a síndrome de Ellis-Van Creveld, nenhuma das quais é letal, juntamente com condrodisplasias letais: Saldino-Noonan (tipo 1), Majewski (tipo 2), Verma-Naumoff (tipo 3) e Beemer-Langer (tipo 4). | |||
| description / en | description / en | ||
Short rib-polydactyly syndromes are a group of bone malformations characterised by a narrow thorax and polydactyly (usually preaxial). Prevalence as a group is unknown. The group is heterogeneous and includes Jeune syndrome and Ellis-Van Creveld syndrome, neither of which are lethal, together with lethal chondrodysplasias: Saldino-Noonan (type 1), Majewski (type 2), Verma-Naumoff (type 3) and Beemer-Langer (type 4). | |||
Revision as of 15:16, 13 August 2026
Short rib-polydactyly syndromes are a group of bone malformations characterised by a narrow thorax and polydactyly (usually preaxial). Prevalence as a group is unknown. The group is heterogeneous and includes Jeune syndrome and Ellis-Van Creveld syndrome, neither of which are lethal, together with lethal chondrodysplasias: Saldino-Noonan (type 1), Majewski (type 2), Verma-Naumoff (type 3) and Beemer-Langer (type 4).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LD24.B0 |
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| English | Short rib-polydactyly syndrome |
Short rib-polydactyly syndromes are a group of bone malformations characterised by a narrow thorax and polydactyly (usually preaxial). Prevalence as a group is unknown. The group is heterogeneous and includes Jeune syndrome and Ellis-Van Creveld syndrome, neither of which are lethal, together with lethal chondrodysplasias: Saldino-Noonan (type 1), Majewski (type 2), Verma-Naumoff (type 3) and Beemer-Langer (type 4). |
