Cornelia de Lange syndrome (Q94152)
From determinar.ia.br - Determine suas informações
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). |
