Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

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Cri-du-chat (Cat's Cry) Syndrome (5p-) [Q93.4]

OMIM number: 123450

Dr. med. Imma Rost

Scientific Background

Similarly to the Wolf-Hirschhorn syndrome, the Cri-du-chat syndrome does not belong to the microdeletion syndromes in the narrower sense, since the deletion on the short arm of chromosome 5 frequently exhibits a size already detectable in the conventional chromosome analysis. Smaller deletions can be detected molecular cytogenetically or by array CGH. With a frequency of approx. 1:15,000 to 1:50,000, the deletion 5p is among the most frequently occurring autosomal deletions. The name of the syndrome derives from the high-pitched cry of the newborns, which is pathognomonic for the syndrome. The children frequently exhibit muscular hypotonia, microcephaly, epicanthal folds, down-slanting palpebral fissures, clinodactyly of the 5th finger and sometimes cardiac defects. The development is significantly delayed, especially the development of speech. In adolescents and adults, the IQ lies within the range of severe intellectual disability (< 20). Life expectancy is not severely limited, except in patients with a complex cardiac defect. Patients with smaller or interstitial deletions frequently only exhibit some of the symptoms, such as the high-pitched cry as a newborn, but no signs of dysmorphia or less severe developmental disorder.