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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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.
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The most common way of getting Angelman syndrome is through chromosome deletion. This is responsible for about 68% of all cases o...
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Some characteristics of DS are: 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. Improvement can be made through physicians, special education, physical therapy, speech therapy, occupational therapy, and psychol...
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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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