Cri Du Chat Syndrome

Excerpt

Cri-du-chat is a genetic disorder that is caused by a deletion of the short arm of chromosome 5. The name of the syndrome, meaning cat cry, was coined after the main clinical finding of a high-pitched, monochromatic cat-like cry. The clinical picture, severity, and progression of the disease vary depending on the region of the chromosome deleted and whether it is terminal or interstitial. In other words, differences in phenotype are attributable to the differences in genotype. This disorder characteristically presents with distinctive facial features, delayed development, and intellectual disability.