cri-du-chat syndrome

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cri-du-chat syndrome

Cri-du-chat (cat's cry) syndrome, also known as 5p- syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high-pitched cry that sounds like that of a cat.

The disorder is characterized by intellectual disability and delayed development, distinctive facial features, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy. Some children with cri-du-chat syndrome are also born with a heart defect.

Definition from Genetics Home Reference, US National Library of Medicine: cri-du-chat syndrome

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