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Article

Cri du Chat syndrome.

Orphanet journal of rare diseases - 5 Sept 2006

Cerruti Mainardi Paola

Abstract excerpt

The Cri du Chat syndrome (CdCS) is a genetic disease resulting from a deletion of variable size occurring on the short arm of chromosome 5 (5p-). The incidence ranges from 1:15,000 to 1:50,000 live-born infants. The main clinical features are a high-pitched monochromatic cry, microcephaly, broad nasal bridge, epicanthal folds, micrognathia, abnormal dermatoglyphics, and severe psychomotor and mental retardation....

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Source

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Identifiers

PMID: 16953888
DOI: 10.1186/1750-1172-1-33
PMCID: PMC1574300

Genes

CTNND2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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