Cornelia de Lange syndrome (Q94152): Difference between revisions
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A síndrome de Cornelia de Lange é uma doença multissistêmica com expressão variável marcada por um dismorfismo facial característico, graus variáveis de déficit intelectual, retardo de crescimento grave começando antes do nascimento (2º trimestre), mãos e pés anormais (oligodactilia, ou às vezes uma amputação ainda mais grave, e constante braquimetacarpia do primeiro metacarpo), e várias outras malformações (isto é, coração, rim). | |||
| description / en | description / en | ||
Cornelia de Lange syndrome is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation beginning before birth (2nd trimester), abnormal hands and feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia of the first metacarpus), and various other malformations (i.e. heart, kidney). | |||
Revision as of 09:16, 16 August 2026
Cornelia de Lange syndrome is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation beginning before birth (2nd trimester), abnormal hands and feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia of the first metacarpus), and various other malformations (i.e. heart, kidney).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1801560012 |
||
| English | Cornelia de Lange syndrome |
Cornelia de Lange syndrome is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation beginning before birth (2nd trimester), abnormal hands and feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia of the first metacarpus), and various other malformations (i.e. heart, kidney). |
