Cri-du-chat syndrome (Q62760): Difference between revisions
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A síndrome cri-du-chat (francês para "grito de gato") é uma doença genética resultante de uma deleção de tamanho variável que ocorre no braço curto do cromossomo 5 (5p-). As principais manifestações clínicas são choro monocromático agudo, microcefalia, ponte nasal larga, pregas epicânticas, micrognatia, dermatoglifia anormal e gave déficit psicomotor e intelectual. | |||
| description / en | description / en | ||
The cri-du-chat (French for "cat's cry") syndrome is a genetic disease resulting from a deletion of variable size occurring on the short arm of chromosome 5 (5p-). The main clinical features are a high-pitched monochromatic cry, microcephaly, broad nasal bridge, epicanthal folds, micrognathia, abnormal dermatoglyphics, and severe psychomotor and intellectual deficit. | |||
Revision as of 10:14, 14 August 2026
The cri-du-chat (French for "cat's cry") syndrome is a genetic disease resulting from a deletion of variable size occurring on the short arm of chromosome 5 (5p-). The main clinical features are a high-pitched monochromatic cry, microcephaly, broad nasal bridge, epicanthal folds, micrognathia, abnormal dermatoglyphics, and severe psychomotor and intellectual deficit.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_620584190 |
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| English | Cri-du-chat syndrome |
The cri-du-chat (French for "cat's cry") syndrome is a genetic disease resulting from a deletion of variable size occurring on the short arm of chromosome 5 (5p-). The main clinical features are a high-pitched monochromatic cry, microcephaly, broad nasal bridge, epicanthal folds, micrognathia, abnormal dermatoglyphics, and severe psychomotor and intellectual deficit. |
