Similarly, specific risk factors associated with prenatal events or parental age have are not clear. The exact incidence and prevalence worldwide and among races has not been established. The incidence ranges from 1 in 15,000 to 1 in 50,000 liveborn infants. The incidence in females is slightly higher than in males. EpidemiologyĪlthough Cri du chat is considered a rare disorder, it is one of the most common chromosomal anomalies. Mosaicism, inversions, and ring chromosomes are less common mechanisms. Moreover, 80% to 90% of cases result from terminal deletions of chromosome 5, while 3% to 5% are due to an interstitial deletion. The remaining 10% to 15% result from unbalanced parental translocation.

Around 80% to 90% are paternal in origin, which can arise from a chromosomal breakage during gamete formation.

The deletions occur as random events during the formation of reproductive cells in early fetal development. EtiologyĬri-du chat results from either a partial or complete deletion of chromosome 5p. This disorder characteristically presents with distinctive facial features, delayed development, and intellectual disability. In other words, differences in phenotype are attributable to the differences in genotype. 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. The name of the syndrome, meaning cat cry, was coined after the main clinical finding of a high-pitched, monochromatic cat-like cry. Summarize the importance of improving coordination amongst interprofessional team members to enhance outcomes for patients affected by cri du chat syndrome.Ĭri-du-chat is a genetic disorder that is caused by a deletion of the short arm of chromosome 5.Outline the treatment options for cri du chat syndrome.Identify the cause of cri du chat syndrome.Describe the presentation of a patient with cri du chat syndrome.This activity illustrates the presentation, evaluation, and management strategies for Cri du chat syndrome and highlights the interprofessional team's role in the care of affected patients. This disorder is often characterized by distinctive facial features, delayed development, and intellectual disability. The clinical picture, severity, and progression of the disease vary depending on the region of the chromosome that is deleted. The name of the syndrome means the cry of the cat and describes the main clinical finding of a high-pitched, monochromatic cat-like cry. Cri du chat syndrome is a genetic disorder caused by a deletion of the short arm of chromosome 5.