Cri-du-Chat Syndrome

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Introduction

The growth and development of a prenatal baby is sometimes taken for granted by the parents, but one little change in a chromosome can result in a variety of genetic disorders. Discovered by Dr. Jerome Lejune, Cri-du-Chat Syndrome is the production of a deletion in the short arm of the chromosome number 5. Cri-du-Chat Syndrome has a number of symptoms, but the distinctive feature is the cat-like “mew” that infants produce, which is what the syndrome is named for. This rare genetic disorder affects an estimated 1 in 20,000 to 50,000 live births, is more common in females (a 4:3 ratio), and is seen in all ethnicities. (4& 5 Curriti)

Signs, Symptoms, and Distinctions of Cri-du-Chat Syndrome

Although the syndrome gets it’s name from the distinctive cry affected infants make, Cri-du-Chat syndrome also has many other symptoms that are not as distinctive as the cat-like cry, and occur in other developmental and genetic disorders. These include:
• Low birth weight, caused by feeding problems because of difficulty swallowing and sucking.
• Severe cognitive, speech and motor delays, or slow or incomplete development of motor skills
• Unusual facial features that can change over time, such as: o Small head (microcephaly) o Small jaw (micrognathia) o Downward slant to the eyes
• Partial webbing of the fingers and toes
• Single line in the palm of the hand (simian crease)
• Frequent medical problems such as upper respiratory tract infections, otis media, and severe constipation.
Other features that are associated with Cri-du-Chat syndrome include: growth retardation, a round face with full cheeks, a flat nasal bridge, short fingers, small hands and feet, and various cardiac defects, such as VSD (Ventrical Septal Defect) and AS...

... middle of paper ...

...i du chat syndrome.." Archives of Disease in Childhood. BJM, 7 June 1996. Web. 2 Dec. 2013. .
2.) Howlin, Patricia, Tony Charman, and Mohammad Ghaziuddin. The SAGE handbook of developmental disorders. Los Angeles, Calif.: SAGE, 2011. Print.
3.) Judd, Sandra J.. Genetic disorders sourcebook: basic consumer health information about heritable disorders, including disorders resulting from abnormalities in specific genes .... 4th ed. Detroit, MI: Omnigraphics, 2010. Print.
4.) Mainardi, Paola. "Abstract." National Center for Biotechnology Information. U.S. National Library of Medicine, 5 Sept. 2006. Web. 29 Nov. 2013. .
5.) Mainardi, Paola Cerruti . "Cri du Chat syndrome." Orphanet Journal of Rare Diseases. N.p., 26 July 2006. Web. 2 Dec. 2013. .

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