Cri-du-Chat Syndrome

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Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p? syndrome (pronounced "Five P Minus") or Lejeune's syndrome, is a rare genetic disorder due to chromosome deletion on 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. It was first described by Jérôme Lejeune in 1963. The condition affects an estimated 1 in 50,000 live births across all ethnicities and is more common in females by a 4:3 ratio.

Diagnosis is based on the distinctive cry and accompanying physical problems. These common symptoms are quite easily observed in infants. Affected children are typically diagnosed by a doctor at birth.

It has also been observed that people with the condition have difficulties communicating. While levels of proficiency can range from a few words to short sentences, it is often recommended by medical professionals for the child to undergo some sort of speech therapy/aid with the help of a professional.

Exceptionally, some with Cri du chat are very high-functioning and do not seem very different from developmentally typical individuals, with mostly the exception of mild learning difficulties, and do not have speech difficulties although they may have milder facial features and a high-pitched voice due to their condition.