Cri-du-chat Syndrome By: Jace Pfuhl

Cri-du-chat syndrome is a chromosomal condition that results when a piece of chromosome 5 is deleted. The size of the deletion of the chromosome varies throughout cases Studies show that individuals with a larger deletion tend to have a more severe intellectual disability and developmental delay than smaller deletions.

Infants with cri-du-chat tend to have a ferocious cry that sounds like that of a cat (hence its name). The disorder is characterized by intellectual disability and delayed development, small head size, low birth weight, and weak muscle tone in infancy. Affected individuals have distinct facial features, like widely set eyes, low-set ears, a small jaw, and a rounded face. Children born with cri-du-chat are born with a heart defect.

Syndrome occurs in an estimated 1 in 50,000 newborns of all ethnicities. Most cases of cri-du-chat are NOT inherited. The deletion occurs as a random event during the formation of reproductive cells.