Cri du chat syndrome

Also known as: 5p deletion syndrome

5p deletion with cat-like cry and intellectual disability.

Medical specialty: Pediatrics
Subspecialty: Pediatrics / Pediatric genetics
Sex & age distribution: Male: affected; Female: affected, slight female predominance; Children: yes, from birth
Gene(s) involved: CTNND2, SEMA5A, TERT

Etiology & mechanism

Terminal deletion of the short arm of chromosome 5.

Gene(s) involved (3)

CTNND2SEMA5ATERT

Symptoms & signs (6)

epicanthal foldshigh-pitched cryhypotoniaintellectual disabilitymicrocephalyround face

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