Cri Du Chat

Infants with this condition have a high-pitched cry.

Chromosomes

The genetic disorder is caused when the 5p chromosome is deleted. Most cases of cri-du-chat syndromes are not inherited. The deletion of the 5p chromosome occurs most often as a random event during the formation of reproductive cells.

Symptoms

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.

Who it affects

Cri-du-chat syndrome occurs in an estimated 1 in 20,000 to 50,000 newborns. This condition is found in people of all ethnic backgrounds. Only about 10% of the people inherit the genetic disorder.

How to treat it

There is no cure for a genetic disorder. So therapy is the most common type of treatment for people who have genetic disorders. There are many different types of therapist that help with speech, diet, and audio problems.