Cri-du-chat Syndrome: Background, Pathophysiology, Epidemiology

Cri-du-chat Syndrome

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In 1963, Lejeune et al described a syndrome consisting of numerous congenital anomalies, mental retardation, microcephaly, abnormal face, and a mewing sob in infants with a deletion of a B group chromosome (Bp-), later identified as 5p-. [1]

Cri-du-chat syndrome is an autosomal deletion syndrome caused by a partial deletion of chromosome 5p and is characterized by a distinctive, high-pitched, catlike sob in infancy with growth failure, microcephaly, facial abnormalities, and mental retardation across life. See the photos below.

In latest years, the application of genetic molecular methods introduced advances in the diagnosis and typification of the cri-du-chat syndrome. [Two]


See the list below:



The estimated prevalence is about one in 50,000 live births. The prevalence among individuals with mental retardation is about 1.Five in 1000.


With contemporary interventions, the chance of survival to adulthood is possible. Presently, the mortality rate of cri-du-chat syndrome is 6-8% in the overall population.

Pneumonia, aspiration pneumonia, congenital heart defects, and respiratory distress syndrome are the most common causes of death.

A explore by Lefranc et al indicated that protein-energy malnutrition is a frequent problem in cri-du-chat syndrome, with a review of questionnaires from thirty six families exposing evidence of such malnutrition in 47% of patients. [8]

No racial predilection has been found.

A significant female predominance is observed in affected newborns, with a male-to-female ratio of 0.72:1.

The condition is detected in newborns and infants because of the catlike sob and dysmorphic features.


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