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  • Essay / DiGeorge Syndrome - A Genetic Disorder - 956

    A genetic disorder, such as DiGeorge syndrome, is a disease caused by one or more abnormalities, which may be passed down through parents, DNA, or mutations. DiGeorge syndrome (DGS) is a rare type of genetic disorder caused by deletion of chromosome 22. DiGeorge syndrome affects many parts of the body and has a prevalence of 1:4000. Signs and symptoms of DiGeorge syndrome vary from mild to severe. . Symptoms may differ depending on the extent of the affected areas and the severity of these defects. Some signs of symptoms may be noticed from birth, while others are not visible until late childhood. Some symptoms caused by DiGeorge syndrome affect the appearance of the face, such as low-set ears, underdeveloped chin, small mouth, and bulbous tip of the nose (“DiGeorge Syndrome American Academy”). Other facial defects include small teeth, a downturned mouth, and a long face (Bawle). DiGeorge syndrome has not only external defects, but also internal defects. Internal abnormalities include heart abnormalities, kidney abnormalities, gastrointestinal problems, and spinal bone abnormalities (22q11.2). Other internal defects include a weak immune system, low calcium levels, and decreased blood platelets (“DiGeorge syndrome” nationwide). DGS not only affects a child's physical appearance, but also their internal appearance. Besides facial and internal defects, DiGeorge syndrome also causes cognitive defects. Cognitive defects are said to include speech delay, ADHD, behavioral problems and OCD (immune “DiGeorge syndrome”). Finally, DiGeorge syndrome can also cause mental or emotional problems such as anxiety, depression, and high-functioning schizophrenia (22q11.2). When a child is diagnosed with DiGeorge syndrome, there is...... middle of paper ...... the cause of the severity, treatments must be personal. Works Cited Bawle, Erawati V. “DiGeorge Syndrome.” Medical landscape. March 12, 2014. the web. April 15, 2014. “DiGeorge Syndrome (DGS). » American Academy of Allergy, Asthma and Immunology. 2014. Internet. April 17, 2014. “DiGeorge Syndrome.” » American Heart Association. 2014. Internet. April 17, 2014. “DiGeorge Syndrome.” » Immunodeficiency Foundation. 2013. Internet. April 17, 2014. “DiGeorge Syndrome (DGS). » Children nationwide. 2014. Internet. April 17, 2014. “Pedigree of DiGeorge Syndrome.” Glogster. 2012. Internet. May 7, 2014. Simon, Tony J., Merav Burg-Malki, Doron Gothelf. “Cognitive and behavioral characteristics of children with chromosome 22q11.2 deletion syndrome.” UC Davis. April 23, 2014. the web. April 24, 2014. “22q11.2 deletion syndrome.” Home reference on genetics. United States National Library of Medicine. April 7, 2014. the web. April 15 2014.