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...

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...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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