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  • Essay / Cri-du-Chat Syndrome - 921

    IntroductionThe growth and development of a prenatal baby is sometimes taken for granted by parents, but a small change in a chromosome can lead to various genetic disorders. Discovered by Dr. Jérôme Lejune, Cri-du-Chat syndrome is the production of a deletion in the short arm of chromosome number 5. Cri-du-Chat syndrome presents a number of symptoms, but the distinctive feature is that of a cat. “meow” that infants produce, hence the name of the syndrome. This rare genetic disorder affects approximately 1 in 20,000 to 50,000 live births, is more common in women (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 its name from the distinctive cries made by affected infants, Cri-du-Chat syndrome also has many other symptoms that are not not as distinctive as those of the cat. -like a cry, and occur in other developmental and genetic disorders. These include: • Low birth weight, caused by feeding problems due to difficulty swallowing and sucking. • Severe cognitive, speech, and motor delays, or slow or incomplete development of motor skills. • Unusual facial features that may change over time, such as: o Small head (microcephaly) o Small jaw (micrognathia) o Downward sloping eyes • Partial webbing of fingers and toes • Single line in the palm of the hand (simian fold)• Common medical problems such as upper respiratory infections, otis media and severe constipation. Other characteristics associated with Cri-du-Chat syndrome include: failure to thrive, a round face with full cheeks, a flat nasal bridge, short fingers, small hands and feet, and various heart defects, such as VSD (Ventrical Septal Defect) and AS...... middle of paper ......i cat syndrome.." Archives of Disease in Childhood. BJM, June 7, 1996. Web. December 2, 2013. . 2 .) Howlin, Patricia, Tony Charman, and Mohammad Ghaziuddin. The SAGE Handbook of Developmental Disabilities Los Angeles, CA: SAGE, 2011. Print.3.) Judd, Sandra J.. Genetic Disorders Compendium: Basic Information. on consumer health regarding inherited disorders, including disorders resulting from abnormalities in specific genes.... 4th ed. Detroit, MI: Omnigraphics, 2010. Print.4.) Mainardi, Paola. National Center for Biotechnology Information. US National Library of Medicine, September 5, 2006. Web. November 29, 2013. .5.) Mainardi, Paola Cerruti. “Cry of the Cat Syndrome.” Orphanet Journal of Rare Diseases. Np, July 26, 2006. Web. December 2. 2013. .