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. 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. SEMAF/ SEMA5A and CTNND2 have been mapped to the critical regions, and their deletion may be associated with mental retardation in CdCS patients. The TERT deletion may contribute to the phenotypic changes in CdCS.
Category
Chromosomal abnormality
Brite
Human diseases [BR:br08402]
Other congenital disorders
Chromosomal abnormalities
H00764 Chromosome 5p deletion syndrome
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Chromosomal anomalies, excluding gene mutations
LD44 Deletions of the autosomes
H00764 Chromosome 5p deletion syndrome
