Catalog

Cri-du-chat syndrome

No MMS code

Link to WHO Definition

Cri-du-chat syndrome – http://id.who.int/icd/entity/620584190

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.