The syndrome is more noticeable as the child ages, but becomes difficult to diagnose past age 2.
Cri-du-chat also carries many disabilities and abnormalities.
Harold Chen, MD, MS, FAAP, FACMG Professor, Department of Pediatrics, Louisiana State University Medical Center Harold Chen, MD, MS, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics Disclosure: Nothing to disclose.
Mary L Windle, Pharm D Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference Disclosure: Nothing to disclose.
But it’s one of the more common syndromes caused by chromosomal deletion. Infants with the syndrome produce a high-pitched cry that sounds like a cat.
The larynx develops abnormally due to the chromosome deletion, which affects the sound of the child’s cry.
The characteristic high-pitched, shrill cry associated with cri du chat syndrome is present during the first few weeks of life.
Most fatal complications occur before the child’s first birthday.
The Cri du Chat syndrome (Cd CS) is a genetic disease resulting from a deletion of variable size occurring on the short arm of chromosome 5 (5p-).
The incidence ranges from ,000 to ,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.
Malformations, although not very frequent, may be present: cardiac, neurological and renal abnormalities, preauricular tags, syndactyly, hypospadias, and cryptorchidism.