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Cri Du Chat Syndrome


Overview :

Dr. Jerome Lejeune first described cri du chat syndrome in 1963. The syndrome is named for the cat-like cry made by infants with this genetic disorder. Cri du chat means "cat's cry" in French. This unusual cry is caused by abnormal development of the larynx (organ in the throat responsible for voice production). Cri du chat syndrome is also called 5p deletion syndrome because it is caused by a deletion, or removal, of genetic material from chromosome 5. The deletion that causes cri du chat syndrome occurs on the short or "p" arm of chromosome 5. This deleted genetic material is vital for normal development. Absence of this material results in the features associated with cri du chat syndrome.

A high-pitched mewing cry during infancy is a classic feature of cri du chat. Infants with cri du chat also typically have low birth weight, slow growth, a small head (microcephaly) and poor muscle tone (hypotonia). Infants with cri du chat may have congenital heart defects. Individuals with cri du chat syndrome have language difficulties, delayed motor skill development, and mental retardation. Behavioral problems may also develop as the child matures.

It has been estimated that cri du chat syndrome occurs in one of every 50,000 live births. It accounts for 1 in every 500 cases of mental retardation. According to the 5p minus Society, approximately 50-60 children are born with cri du chat syndrome in the United States each year. It can occur in all races and in both sexes, although there is a slight female predominance. The male:female ratio is 3:4.




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