Cri-du-chat (cat's cry) syndrome results from partial deletion of the short arm of chromosome 5 (also called 5p deletion syndrome, 5p– syndrome, and monosomy 5p syndrome). One of the most characteristic features is a high-pitched cat-like cry from which the syndrome gets its name. Facial dysmorphisms include hypertelorism, epicanthal folds, flat nasal bridge, low-set ears, and rounded face. Microcephaly, hypotonia, and severe developmental delay and intellectual disability are seen. Self-injurious behaviors are common and tend to be most problematic in childhood. Less frequently seen features include cardiac and renal abnormalities, hypospadias, and cryptorchidism. Incidence is 1 in 50 000 births.
ICD10CM: Q93.4 – Deletion of short arm of chromosome 5
SNOMEDCT: 70173007 – 5p partial monosomy syndrome
Differential Diagnosis & Pitfalls
Down syndrome (trisomy 21) – often can be easily distinguished by the characteristic facial features and other associated congenital abnormalities