Cri du chat Syndrome

Cri du chat Syndrome

Cri du chat , also known as 5p- (5p minus) syndrome or cat cry syndrome, is a genetic condition present from birth that is caused by the deletion of genetic material on the small arm (the p arm) Infants with this condition often have a high-pitched cry that sounds like that of a cat. While cri du chat syndrome is a genetic condition, but most cases of cri du chat are not. This occurs most often as a random event during the formation of (eggs or sperm) or in early foetal development. Most affected individuals do not have a history of the disorder in their family.
The clinical symptoms of cri du chat syndrome usually include a high-pitched cat-like cry, mental retardation, delayed development, distinctive facial features, small head size (microcephaly), widely-spaced eyes (hypertelorism), low birth weight and weak muscle tone (hypotonia) in infancy. The cat-like cry typically becomes less apparent with time.

Most individuals who have cri du chat syndrome have difficulty with language. Half of children learn sufficient verbal skills to communicate. Some individuals learn to use short sentences, while others express themselves with a few basic words, gestures, or sign language.
Other characteristics may include feeding difficulties, delays in walking, hyperactivity, scoliosis, and significant retardation. A small number of children are born with serious organ defects and other life-threatening medical conditions, although most individuals with cri du chat syndrome have normal life expectancy. Both children and adults with this syndrome are usually friendly and happy, and enjoy social interaction.

 

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