Is cri du chat syndrome a terminal deletion?

There is no cure for cri du chat syndrome . Treatment aims to stimulate the child and help them to reach their full potential and can include: physiotherapy to improve poor muscle tone. speech therapy.

Cri du chat syndrome is a genetic disorder caused by a deletion of the short arm of chromosome 5 .

With contemporary interventions, the chance of survival to adulthood is possible. Currently, the mortality rate of cri-du-chat syndrome is 6-8% in the overall population. Pneumonia, aspiration pneumonia, congenital heart defects, and respiratory distress syndrome are the most common causes of death.

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.