Overview
Cri du chat syndrome describes a set of features seen due to the deletion of the short arm of chromosome 5 (a 5p deletion). Affected infants make a characteristic high-pitched cry similar to a meowing cat due to laryngeal and neurological dysfunction.
Epidemiology
- Cri du chat syndrome has an incidence of up to 1 in 15,000 live births
- It is slightly more common in girls than boys
Presentation
- Characteristic cry similar to a meowing kitten – due to laryngeal and neurological dysfunction
- Poor weight gain
- Feeding difficulties
- Learning difficulties
- Microcephaly
- Micrognathism – smaller-than-normal jaw
- Hypertelorism – widely-spaced eyes
