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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Jacob’s syndrome 2 Anatomy and Physiology: Jacob’s syndrome Over the past 40 years people have been aware of Jacobs’s syndrome‚ a rare chromosomal genetic syndrome which occurs when a male receives an extra Y chromosome‚ resulting in a sequence in XYY. Males normally have XY and females normally have XX sequencing 1. Chromosomes store genetic information in all human beings. There are 23 pairs of chromosomes and 46 in total. On the 23rd pair holds the sex chromosomes which also store genetic information
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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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My condition 3is called ITB syndrome Explanation: ITB syndrome stands for Iliotibial Band Syndrome. This is a common thigh injury generally associated with running. The band is crucial to stabilizing the knee during running. The irritation usually occurs over the outside of the knee joint‚ at the lateral epicondyle. The iliotibial band crosses bone and muscle at this point; between these structures is a bursa‚ which should facilitate a smooth‚ gliding motion. However‚ when inflamed‚
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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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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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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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Alagille Syndrome Abstract Alagille syndrome is a genetic disorder passed either by the parents or due to a genetic mutation(s). The liver is the affected region of the body. The liver has a lower count of bile ducts within the liver resulting in liver damage due to buildup of bile. If the liver stops working a transplant is needed for the patient to survive. This disorder also affects many other systems of the body. Treatment options include either use drugs or a liver transplant. There is
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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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