Cri Du Chat Syndrome

Lindsey Kim

Cri Du Chat is the loss or deletion of a significant portion of the

genetic material from the short arm of one of the pair of number five

chromosomes.

CDC is a relatively rare genetic condition where it is estimated that 1:25,000 to 1:50,000 births

are being diagnosed with CDC.

History

• In 1963, Le Jeune et al described a syndrome consisting of multiple congenital anomalies, mental retardation, microcephaly, abnormal face, and a mewing cry in infants with a deletion of a B group chromosome (Bp-), later identified as 5p-.1 (basically CDC.)

Most cases of cri du chat syndrome are not inherited or passed down among families. Just a random

deletion occurs.

How it is diagnosed…

Doctors most often identify cri-du-chat by the infant's cat-like cry.

Other signs are microcephaly, poor muscle tone, and mental retardation. It is also possible to test for cri-du-

chat (and other chromosomal abnormalitites) while the baby is still

in its mother's womb. They can either test a tiny sample of tissue

from outside the sac where the baby develops (chorionic villus sampling (CVS)), or they can test a sample of the amniotic fluid (amniocentesis).

"Cri du Chat" is French for "cat's cry"

The most distinctive characteristic about CDC is the distinctive high-pitched, monotone, cat-like cry.

http://www.criduchat.asn.au/criduchat/Images/babycryb.wav

Symptoms:

Treatments

• Although there is no real treatment for cri-du-chat syndrome, children with the disorder can go through therapy to improve their language skills, motor skills, and to help them develop as normally as possible.

Works Citedhttp://learn.genetics.utah.edu/content/disorders/whataregd/cdc/

http://www.naturalstandard.com/index-abstract.asp?create-abstract=/monographs/conditions/condition-criduchat.asp

http://ghr.nlm.nih.gov/condition=criduchatsyndrome

http://www.nlm.nih.gov/medlineplus/ency/article/001593.htm

http://rarediseases.about.com/cs/criduchatsynd/a/010704.htm

http://emedicine.medscape.com/article/942897-overview