Meckel-Gruber syndrome (Q46421): Difference between revisions
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A síndrome de Meckel (MKS) é uma doença monogênica caracterizada por uma combinação de cistos renais e características variavelmente associadas, incluindo anomalias de desenvolvimento do sistema nervoso central (geralmente encefalocele occipital), displasia ductal hepática, cistos hepáticos e polidactilia, e curso letal, com a morte ocorrendo no período perinatal. | |||
| description / en | description / en | ||
Meckel syndrome (MKS) is a monogenic disease characterised by a combination of renal cysts and variably associated features, including developmental anomalies of the central nervous system (usually occipital encephalocele), hepatic ductal dysplasia and cysts, and polydactyly, and a lethal course, with death occurring in the perinatal period. | |||
Revision as of 14:59, 13 August 2026
Meckel syndrome (MKS) is a monogenic disease characterised by a combination of renal cysts and variably associated features, including developmental anomalies of the central nervous system (usually occipital encephalocele), hepatic ductal dysplasia and cysts, and polydactyly, and a lethal course, with death occurring in the perinatal period.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LD2F.13 |
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| English | Meckel-Gruber syndrome |
Meckel syndrome (MKS) is a monogenic disease characterised by a combination of renal cysts and variably associated features, including developmental anomalies of the central nervous system (usually occipital encephalocele), hepatic ductal dysplasia and cysts, and polydactyly, and a lethal course, with death occurring in the perinatal period. |
