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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In 1980, the first reported case of Angelman disease was reported in America. As more and more children were being diagnosed with Angelmans disease, a professor from the University of Florida, Dr. Charles Williams, started researching the disease. Years went by with no progress, but then in 1987 Dr. Williams discovered that a code was missing from chromosome 15. This new information was a breakthrough, but it would still until 1997 to figure out that the UBE3A gene on chromosome 15 was mutilated or missing in patients diagnosed with Angelman disease. Since 1997 doctors and scientists have been able to find that Angelman disease is a neuro-genetic disorder which means that Angelman disease is very complex and attacks the nervous system. They have also been able to determine that the disease is rarely inherited and that the mutilation of the UBE3A gene occurs during sperm and egg formation.
MOD. "Tay-Sachs and Sandhoff diseases." Birth Defects. March of Dimes, Dec. 2009. Web. 12 Feb. 2014. .
Waardenburg Syndrome is a rare genetic disorder meaning that is caused by a mutation of genes. The disorder is classified as type I, II, III, or IV based on inheritance pattern and symptoms (Genetics 2013). Waardenburg Syndrome is an incurable disorder that is inherited from either one or both parents. If it came from one parent, it is an autosomal dominant pattern and if it came from both, it is known as an autosomal recessive pattern (Calendar 2013). Hearing loss, abnormalities with pigmentation of hair, eyes, and skin and other minor defects are some symptoms of Waardenburg Syndrome. There are many ways to diagnose the disorder and many treatments of the symptoms of it as well.
Altherr, M.R., Bengtsson, U., Elder, F. F. B., Ledbetter, D. H., Wasmuth, J. J., McDonald, M.E., Gusella, J. F., Greenberg, F. Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4. Am. J. Hum. Genet. 49: 1235-1242, 1991. [PubMed: 1746553]
Williams, C. A., Angelman, H., Clayton-Smith, J., Driscoll, D. J., Hendrickson, J. E., Knoll, J., Magenis, R., Schinzel, A., Wagstaff, J., Whidden, E. M. & Zori, R. T. (1995). Angelman Syndrome: Consensus for Diagnostic Criteria. American Journal of Medical Genetics, 56, 237-238.
Prader-Willi Syndrome, named after the doctors who described it in 1956, is a rare genetic mutation involving missing genes on chromosome 15. The syndrome has two distinct stages and affects the growth and development in patients diagnosed with the disorder. The most major symptom of this disorder is the irregular appetite causing severe weight gain. Prader-Willi syndrome is the most common genetic cause of life-threatening childhood obesity and affects a patient for their entire life span. The syndrome occurs in all races and equally between both males and females however it is not inherited in 99% of cases.
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.
This genetic disorder is not specific to a certain age, ethnic group, or gender; theref...
This disease is caused by a defective gene and was discovered in the 1930's. Scientists are
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
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).
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2. "Rett syndrome." Holly A. Ishmael, MS, CGC. The Gale Encyclopedia of Genetic Disorders. Ed. Laurie Fundukian. 3rd ed. Detroit: Gale, 2010. 2 vols.
Because Williams Syndrome is very uncommon within a large crowd among people, the causes that are known to trigger the disorder are very few. The causes or conditions that are known to trigger Williams Syndrome is by the deletion of twenty-six to twenty-eight genes on chromosome #7. Many people may conclude that just because Williams Syndrome is a “genetic” disorder meaning that it has to be inherited from their parents are incorrect. Most people may not inherit Williams syndrome because the chances of his or her child to inherit the syndrome is a low 50/50 chance. That is because when the deletion of the 26 – 28 genes that takes place within the chromosome number seven are of what randomly chosen events that particularly occur in the male or female eggs or sperm .When dealing with Williams syndrome many symptoms may come upon the person with this disorder. Some of the symptoms may be not be that eye catching or life threating but some, however some can be life threating. In resulting the person to ...
8) Deering, R., Kaplan, P., Nicholson, S. Williams Syndrome and Anesthesia: Evaluation of a Large Unselected Cohort. Presented at the Williams Syndrome Conference in MI (2000). In publication, Journal of Pediatrics.