Cri-du-chat syndrome
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Synopsis
![Cri-du-chat syndrome : Failure to thrive, Hypertelorism, Hypotonia, Microcephaly, Micrognathia, Nasal bridge wide, Developmental delay, High-pitched cry](/visualdx/sympticonswm/490.png?r=1fdb69a28)
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.
Codes
ICD10CM:
Q93.4 – Deletion of short arm of chromosome 5
SNOMEDCT:
70173007 – 5p partial monosomy syndrome
Q93.4 – Deletion of short arm of chromosome 5
SNOMEDCT:
70173007 – 5p partial monosomy syndrome
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Last Reviewed:08/13/2018
Last Updated:06/15/2022
Last Updated:06/15/2022