Williams Syndrome, also known as Williams-Beuren Syndrome, is a genetic disorder caused by a deletion along chromosome seven. It is named for the two men who discovered and studied it in 1961, J.C.P. Williams of the United States and A.J. Beuren of Germany. Those with the disorder can be identified by their characteristic facial structure, the presence of cardiovascular anomalies and hypercalcemia, and a bright, outgoing personality. The exact number of those affected is unknown, however experts estimate that the probability of having Williams Syndrome is between 1 in 7,500 and 1 in 20,000, and occurs equally in men and women of every nationality.
Williams Syndrome has many symptoms, both physical and mental. Those with Williams Syndrome typically display most, if not all, of the symptoms associated with the disorder. Many people with Williams Syndrome share similar facial features, regardless of their ethnicity. These features include a small upturned nose, a long philtrum (the groove between the center of the base of the nose and the upper lip), a wide mouth with full lips, and a small chin. Almost all cases of Williams Syndrome will suffer from heart and blood vessel issues, the severity of which can range from being trivial to life-threatening. Some will have only a slight narrowing of the arteries, and will be able to go through life without it becoming an issue, others will develop Supravalvular Aortic Stenosis (SVAS), where the aorta (the blood vessel that carries blood to the heart itself) narrows severely, causing shortness of breath, chest pain, and eventually heart failure if left untreated. Musculoskeletal problems are also common, usually in the form of low muscle tone and weakened joints, caused by abnormalities in ...
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Khan, Aneal. “Williams Syndrome.” Ed. Stuart Berger. Medscape. WebMD, 12 Mar. 2012. Web. 15 Feb. 2014. .
Microdeletion On Chromosome 7. The Ambassadors Online Magazine. N.p., July 2008. Web. 19 Feb. 2014. .
Morris, Colleen A., MD. “Williams Syndrome.” National Center for Biotechnology Information. National Center for Biotechnology Information, 9 Apr. 1999. Web. 13 Feb. 2014. .
“What Is Williams Syndrome.” Williams Syndrome. Williams Syndrome Association, n.d. Web. 11 Feb. 2014. .
“Williams Syndrome.” Genetics Home Reference. National Library of Medicine, Mar. 2008. Web. 11 Feb. 2014. .
“What Is a Concussion?” What Is a Concussion? | Brain Injury Research Institute, www.protectthebrain.org/Brain-Injury-Research/What-is-a-Concussion-.aspx. Accessed 30 Jan. 2018.
"Down syndrome." South African Medical Journal 101.1 (2011): 6. Health Reference Center Academic. Web. 16 Apr. 2014.
McKusick, Victor A., Cassandra L. Kniffin, and Joanna. "#268800-Sandhoffs Disease." Online Mendelian Inheritance In Man, 25 Mar. 2009. Web. 10 Feb. 2014. .
Deletion is a mutation in which a part of the chromosome or the DNA is absent or lost. It may be inherent, or it may be due to improper chromosomal crossing-over during meiosis. This deletion is responsible for the abnormalities in the patient. One of the known disorders seen due to deletion is the Wolf-Hirschhorn syndrome.
Nordqvist, C. (2013, November 20). What is Weight Watchers? What are the benefits of Weight Watchers? ADDENDUM TABLE 2 TO WEIGHT WATCHERS DIET. Retrieved from Medical News Today: http://www.medicalnewstoday.com
The normal human karyotype comprises 22 chromosomes from the mother, and 22 from the father. AS is caused by the loss of the normal maternal contribution to a region of chromosome 15, most commonly by deletion of a segment of that chromosome. However, if the paternal contribution to a region of chromosome 15 took place, it would be called Prader-Willi syndrome, the sister disorder of AS. Both disorders can result from deletion, uni-parental disomy, single gene mutation, and imprinting defects of chromosome 15. These two conditions contain both complex similarities and clinical distinctions. They both feature neurological, developmental, and behavioral phenotypes as well as other structural and functional abnormalities. However, symptoms of AS include seizures and ataxia, while PWS includes obsessive-compulsive symptoms and hypothalamic insufficiency.
The most common way of getting Angelman syndrome is through chromosome deletion. This is responsible for about 68% of all cases o...
Quinn, P. (2012). Attention Deficit Hyperactivity Disorder: What Is ADHD?. WebMD. Retrieved on December 3, 2013, from
NIH, National Center for Biotechnology Information. (2015). Cyclothymic Disorder, ncbi.nlm.nih.gov Web. 22 July 2015. http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002517
According to Hassold and Sherman (2002), the probability of giving birth to a child with DS is not linked to any race, ethnicity, socioeconomic status or geographic location. Maternal age seems to be the only etiological factor that may cause DS. Some characteristics of DS include: deep folds at the corners of the eyes, hypotonia, short stature, flexible joints, small oral cavity and heart defects (Taylor, Richards, & Brady, 2005). Most individuals with DS have a moderate intellectual disability, although there is a range of disability, from severe to high functioning (IQ above 70). Since DS is a birth defect and not a disease, there are no treatment options.
"What is the definition of ADHD." Adult - Child - ADD - ADHD. N/A, n.d. Web. 5 Jan. 2014. .
JAMA: Journal of the American Medical Association. 14 Nov. 2001: 2322. Academic Search Complete. Web.
Leigh syndrome is a fatal disorder that causes progressive neurodegeneration in mostly young kids. It was discovered in 1951 by Denis Leigh who originally named it Necrotizing Encephalomyelopathy. Leigh originally classified it based on phenotypes found in a boy who had normal development until the age of 6 months. After this the boy showed various phenotypes including optic atrophy, deafness, and bilateral spasticity. The neurological phenotypes displayed in the boy were: neuron degeneration, gliosis of thalamus, midbrain, medulla, pons, and spinal cord. Leigh believed that the disorder was caused by a lack of thiamine in the boys system (Leigh, 1951).
"Adenosine - What Is Adenosine?" Adenosine - What Is Adenosine? N.p., n.d. Web. 09 Mar. 2014.
University of Maryland Medical Center. (2013, December 18). What is a Pediatrician?. Retrieved September 12, 2014, from http://umm.edu/programs/childrens/health/about/what-is-a-pediatrician