Original Articles: 2010 Vol: 2 Issue: 2
Cri Du Chat Syndrome-A rare genetic disorder: An overview
Abstract
Cri du chat Syndrome is an uncommon and unusual hereditary disorder which is caused by a deletion of chromosome 5p. 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. 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. The aim of present article is to provide in depth knowledge about Cri du chart syndrome which is no doubt, a rare genetic disorder. In this article the author has explained all the clinical aspects related to Cri-du chat syndrome.