Cri du chat syndrome

Cri du chat syndrome (also known as 5p- syndrome and cat's cry syndrome) is a rare genetic disorder due to a missing part of chromosome 5. Its name is a French term ("cat-cry" or "call of the cat") referring to the characteristic cat-like cry of affected children.

Characteristics

Cri du chat syndrome is characterized by a high-pitched cry that sounds like a cat, hence the name. This cry is due to abnormalities in the larynx and nervous system. Other symptoms include intellectual disability, delayed development, distinctive facial features, small head size (microcephaly), widely-spaced eyes (hypertelorism), low birth weight and weak muscle tone (hypotonia) in infancy.

Cause

Cri du chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. This deletion occurs very early in the development of an embryo and the size of the deletion varies among affected individuals. The signs and symptoms of the condition are likely related to the loss of multiple genes on this part of the chromosome.

Diagnosis

Diagnosis of cri du chat syndrome is generally made through a physical examination during early infancy. The cat-like cry is the most prominent clinical feature in newborn children and is usually diagnostic for the cri du chat syndrome. Further diagnostic testing can be performed to confirm the diagnosis, such as a genetic testing to identify the deletion in chromosome 5.

Treatment

There is no specific treatment for cri du chat syndrome. Medical therapy is based on the individual's symptoms and needs. Early intervention with physical, occupational, and speech therapy is important for children with cri du chat syndrome to reach their full developmental potential.

Epidemiology

Cri du chat syndrome is rare, but it is one of the most common syndromes caused by a chromosomal deletion. It affects between 1 in 20,000 to 50,000 newborns. The condition is more common in females than in males.

See also

• Genetic disorder
• Chromosome deletion
• Chromosomal abnormalities

NIH genetic and rare disease info

• NIH info on Cri du chat syndrome

Cri du chat syndrome is a rare disease.

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