Cri+du+Chat+Syndrome

=Cri du Chat Syndrome=

The Cri du Chat Syndrome, French for cry of the cat, is a disease caused by a deletion of the short side of the submetacentric Autosome 5 (2). The short arm of this chromosome has not been researched by scientists, but scientists have found a correlation between some of the symptoms of Cri du Chat and distinct missing genes (1). The missing genes are carried by the sperm 80% of the time (2).

This disease is very rare; only one in 50,000 live births are afflicted with it (2).

Cri du Chat patients don't always survive infancy (1), where the most distinct symptom is a cat-like wail, hence the name (2). This is caused by an abnormal larynx, and is usually corrected by the body in a few weeks (2). Those who do survive typically possess an IQ under 20, and facial disorder, including a large head (BELOW) (1).

Image from http://cas.bellarmine.edu/

Sources (1)http://www.ibis-birthdefects.org/start/criducha.htm (2)http://learn.genetics.utah.edu/units/disorders/karyotype/criduchat.cfm