1. What year was the first documented case? 1961 (Davis) 2. How was williams syndrome identified? Williams Syndrome was identified by physical and mental characteristics. (Davis) 3. Who was the doctor/Patient? Dr. J.C.P. Williams‚ a cardiologist in Auckland‚ New Zealand. (Davis) 4. Are there any famous people with Williams Syndrome? There aren’t any well-known celebrities with Williams Syndrome. 5. What body systems or part of the body does this disorder affect‚ explain how
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Down syndrome Down syndrome is one of the most common genetic disorders‚ occurring one in every 600 births (Davis‚ 2008). 3‚500-5‚000 children are born with Down syndrome every year in the United States alone (Pueschel‚ 2008). Down syndrome or mongolism was first identified by John Langdon Down in 1866 although the syndrome has been around for many centuries. In fact‚ according to many paintings dated back to the sixteenth century show pictures of children with Down syndrome like features (Carr
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Noonan Syndrome Noonan syndrome is a genetic disorder that was once known as Turner-like syndrome. It is a mutation of several genes where they develop proteins that are continuously active; which ends up disrupting the control of the cells growth and division resulting in abnormal developments of the body. Noonan syndrome can affect a person’s physical appearance in multiple ways‚ along with their mental state of mind. This syndrome equally affects males and females. Noonan syndrome was first
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Marfan syndrome 1 THE DISCOVERY OF MARFAN SYNDROME Biology 111 Index 1517 Marfan syndrome page 2 During this past spring semester we have covered many systems of the body in Biology. Covering the endocrine system I learned of a disorder called Marfan syndrome that affected former president Abraham Lincoln. The understanding of Marfan syndrome has evolved over the past few decades. Many diseases are named after the primary researcher or the person who discovered the disease and proclaimed
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Rett Syndrome for Girls Only Rett syndrome is very rare neurological disorder that affects the brain. The disorder primarily effects girls only‚ but there has been reported cases of males with the disorder. The disorder is rare‚ it effects one in every 10‚000 to 15‚000 females‚ in all racial and ethnic groups. Rett syndrome effect one in every 100‚000 males. Rett Syndrome impairs the child’s speech‚ motor functions‚ daily activities‚ and respiratory functions. Rett Syndrome is usually diagnosed
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Munchausen Syndrome 1 Running head: Munchausen Syndrome Munchausen Syndrome by Proxy 5 References Author: Ibrahim Abdulhamid‚ MD‚ Assistant Professor of Pediatrics‚ Wayne State University; Director of Pediatric Pulmonary Medicine‚ Clinical Director of Pediatric Sleep Laboratory‚ Children ’s Hospital of Michigan Coauthor(s): Patricia T Siegel‚ PhD‚ Assistant Professor‚ Departments of Pediatrics‚ Psychiatry and Behavioral Neurosciences‚ Wayne State University School of Medicine Contributor
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Nephrotic syndrome is a group of symptoms including protein in the urine‚ low blood protein levels‚ high cholesterol levels‚ and swelling. The urine may also contain fat‚ which can be seen under the microscope. Nephrotic syndrome is caused by various disorders that damage the kidneys‚ especially the basement membrane of the glomerulus. This causes abnormal excretion of protein in the urine. This condition can also occur as a result of infection‚ use of certain drugs‚ cancer‚ genetic disorders
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Angelman Syndrome In America‚ about 6 million students are known to have some kind of intellectual disability. Intellectual disabilities are not always determined by the IQ level of an individual but rather how they react to their peers‚ self-perception‚ problem solving‚ personal care‚ etc.. It could develop before birth‚ after birth or even in one’s later life. Usually‚ these disabilities are caused by mutation in one of the chromosomes of a fetus. For example‚ some syndromes are the result of
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Having a Down syndrome is such a difficult situation for an individual to have. They have slow physical and mental capabilities that lead them to discrimination. Physical features of having a Down syndrome. Including flattening of the head; slanting of the eyelids; a gap between the first and the second toes; a depressed nasal bridge; relatively small ears‚ mouth‚ hands and feet; short stature; decreased muscle tone and loose ligaments among others. Not every child with Down syndrome has all of these
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Down Syndrome is a chromosomal abnormality and probably the most common genetic condition‚ occurs in approximately one in every eight hundred to one thousand live births or accounts for approximately 5-6 per cent of intellectual retardation. Although‚ most students with Down’s Syndrome are between the mild to moderate range of mental retardation. Initially‚ Down’s Syndrome was given the label of Mongolism due to the physical characteristics of the disorder. A student with Down’s Syndrome is usually
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