DiGeorge Syndrome- A Genetic Disorder

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A genetic disorder, such as DiGeorge syndrome, is an illness caused by one or more abnormalities, which can be passed down through parents, DNA, or mutations. DiGeorge syndrome (DGS) is a rare type of a genetic disorder which is caused by the deletion of chromosome 22. DiGeorge syndrome affects many parts of the body and has a prevalence of 1: 4000 The signs and symptoms of DiGeorge syndrome vary from mild to severe. Symptoms can differ depending on how highly the affected areas are and the severity of those defects. Some signs of symptoms can be noticed at birth, while others are not noticeable until late childhood. Some symptoms caused by DiGeorge syndrome affect facial appearance, such as low set ears, underdeveloped chin, small mouth, and bulbous nose tip (“DiGeorge Syndrome American Academy). Other facial defects include small teeth, down turned mouth, and long face (Bawle). DiGeorge syndrome not only has outside defects, but internal defects as well. Internal defects would include heart abnormalities, kidney abnormalities, gastrointestinal problems, and abnormalities of the spinal bones (22q11.2). Other internal defects include a poor immune system, low calcium levels, and a decrease in blood platelets (“DiGeorge Syndrome” Nationwide). DGS affects not only the physical appearance of a child, but it also affects internally as well. Besides facial and internal defects, DiGeorge syndrome also causes cognitive defects. Cognitive defects would include delayed speech, ADHD, behavioral problems, and OCD (“DiGeorge Syndrome” Immune). Finally, DiGeorge syndrome can also causes mental or emotional problems such as anxiety, depression, and high level schizophrenia (22q11.2). When a child is diagnosed with DiGeorge syndrome, there a... ... middle of paper ... ... the cause of the severity, treatments must be personal. Works Cited Bawle, Erawati V. “DiGeorge Syndrome.” Medscape. 12 March 2014. Web. 15 April 2014. “DiGeorge Syndrome (DGS).” American Academy of Allergy Asthma and Immunology. 2014. Web. 17 April 2014. “DiGeorge Syndrome.” American Heart Association. 2014. Web. 17 April 2014. “DiGeorge Syndrome.” Immune Deficiency Foundation. 2013. Web. 17 April 2014. “DiGeorge Syndrome (DGS).” Nationwide Children’s. 2014. Web. 17 April 2014. “DiGeorge Syndrome Pedigree.” Glogster. 2012. Web. 7 May 2014. Simon, Tony J., Merav Burg-Malki, Doron Gothelf. “Cognitive and Behavioral Characteristics of Children with Chromosome 22q11.2 Deletion Syndrome.” UC Davis. 23 April 2014. Web. 24 April 2014. “22q11.2 Deletion Syndrome.” Genetics Home Reference. U.S. National Library of Medicine. 7 April 2014. Web. 15 April 2014.

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