Genetic Disorders

Cri Du Chat Syndrome

Symptoms and Appearance

The baby has low birth weight, grows slowly, has a high pitched cry, and a downward slant to the eyes. The baby has a small head, wide spread out eyes, round face, folds skin over eyes, small bridge of nose, and chubby fingers

Cause of Disorder

The cry is caused by abnormal larynx development which is caused by deletion on the short arm of chromosome 5.

How It's Diagnosed

The test that is done to diagnose this syndrome is a FISH analysis. The syndrome can be detected before birth if the mother undergoes amniocentesis testing or chorionic villus sampling these testings would only be recommended if mother or father are known to have a chromosome rearrangement.

How It's Treated

There is no real treatment, but children can go through therapy to improve their language skills, motor skills, and to help them develop as normally as possible.

How Many People Get The Disorder

1 in 20,000 to 50,000 newborns have this syndrome. It is found in people of ethnic backgrounds.

Other Important Information

In 80% of the cases the chromosome carrying the deletion comes from the father's sperm rather than the mother's egg.
International Cri Du Chat Syndrome Awareness Video (Phase 1)