Cri-du-chat syndrome

Cri-du-chat (cat's cry) syndrome, also known as 5p- (5p minus) 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, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy. Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face. Some children with cri-du-chat syndrome are born with a heart defect.

Other names

5p deletion syndrome; 5p- syndrome; Cat cry syndrome; Chromosome 5p- syndrome; Monosomy 5p

Inheritance pattern

Not inherited

Related genes

CTNND2

Source: MedlinePlus Genetics, U.S. National Library of Medicine.