Cri du Chat Syndrome Also known as: Cat’s Cry Syndrome & 5p- Syndrome By Molly and Becky
History of Cri du Chat Syndrome ä Cri du Chat was first identified in 1963 by Professor Lejeune (he also identified Down’s Syndrome).
Other historical facts... ä The common belief about patients with Cri du Chat Syndrome was that they should be kept in a home with other severely retarded people or in asylums. ä In the 1980’s research proved that children that grew up in family settings did much better than those that were isolated from the real world.
What are the chances of getting Cri du Chat? ä Cri du Chat varies from every 1 in 20,000 to every 1 in 50,000 births. ä Every year 50-60 new children are born with Cri du Chat in the United States.
What is Cri du Chat Syndrome? Cri du Chat is a hereditary congenital syndrome associated with the deletion of the short arm of chromosome 5 in the brain. The range of deletion can range from very short to very long.
Chromosome 5 ä This is what Chromosome 5 looks like. The diagonal white and black lines mark where the long and short arms are separated. The short arm is on the top. If any part of this short arm is missing, the result is a person with Cri du Chat Syndrome.
Effects of Cri Du Chat: ä Most people have trouble with language and speech ä Some have a shorter life expectancy ä Low birth weight and other complications ä Poor muscle tone ä Mental retardation
Characterized in young children by: ä round face ä low-set ears ä microcephaly ä hypertelorism ä micrognathia ä Epicanthal folds ä the most characteristic thing in children with Cri du Chat Syndrome is a high pitched cat- like cry
What do some of the characteristics look like? ä ä This is an example of what the characteristic of wide set eyes looks like.
What do some of the other characteristics look like? ä ä This is an example of what Microcephaly looks like. Microcephaly is an abnormally small head usually associated with mental retardation. There is no cure for Microcephaly.
Personal Story:Heather Sherman äTäTäTäThis is Heather. äSäSäSäShe is 19 years old. äSäSäSäShortly after she was born, Heather was diagnosed with Cri du Chat Syndrome. äIäIäIäIn June, Heather will be graduating from High School.
More about Heather… ä Heather lives at home with her family. ä She currently attends high school. ä Heather cannot speak, although she can make sounds. ä She communicates through Sign Language and gestures. ä She had a Bat Mitzvah when she was 13 using Sign Language.
Overview of Cri du Chat... ä Cri du Chat is a hereditary congenital disease. ä It is caused by the deletion of any part of the short arm of the 5th chromosome in the brain. ä Cri du Chat causes mental retardation and other complications. ä This disease is not curable or treatable as of now. ä Most people with Cri du Chat have a normal life expectancy. ä Only 1 in 20,000 to 50,000 babies will be born with Cri du Chat.
Bibliography ä Genome Net. Chromosome 5. Internet WWW page, at URL: http://www.genome.ad.jp/ (1999). ä 5p- Society. 5p- Society Webpage. Internet WWW page, at URL: http://www.fivepminus.org (1999). ä Cri-Du-Chat Syndrome Support Group. Cri- Du-Chat Syndrome Support Group Webpage. Internet WWW page, at URL: http:www.criduchat.u-net.com/ (1999).