What is cri du chat syndrome

Cri-du-Chat syndrome, or “cat-cry syndrome,” is due to a large deletion of the terminal short arm of chromosome 5. Therefore, the disorder is also called the 5p-syndrome. Characteristic clinical manifestations of this syndrome are cat-like high-pitched cries, psychomotor retardation, microcephaly and hypertelorism .

Babies with cri du chat syndrome often have low birth weight and may have trouble feeding and breathing. Some have heart defects that require surgery. As children and adults, people with this condition may have significant intellectual, development and speech delay.

Previous investigators have noted the lack of information about the reproductive fitness of patients with this disorder. This report demonstrates that females with cri du chat syndrome are fertile, can gestate and likewise deliver affected offspring , which has significant management and counseling implications.

The clinical symptoms of cri du chat syndrome usually include a high-pitched cat-like cry, mental disablity, delayed development, distinctive facial features, small head size (microcephaly), widely-spaced eyes (hypertelorism), low birth weight and weak muscle tone (hypotonia) in infancy.

Most fatal complications occur before the child’s first birthday. Children with cri-du-chat who reach age 1 generally will have a normal life expectancy . But the child will most likely have lifelong physical or developmental complications. These complications will depend on the severity of the syndrome.