Marfan Syndrome is caused by a genetic mutation. Marfan can be passed on from parents or can occur spontaneously. The disorder happens in the gene that enables your body to produce a protein that helps give connective tissue its elasticity and strength. The mutation results in an increase in a protein called transforming growth factor beta‚ or TGF-B. The increase causes the problems in the connective tissues of the body. Marfan Syndrome is an autosomal recessive disorder. An autosomal recessive
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Antiphospholipid Antibody Syndrome When you think of your body attacking itself‚ what comes to mind? Many people have a hard time understanding how your own body would attack itself and how it would do it. Your immune system plays a big role in your everyday life to help protect you from the outside world to prevent you from getting infected with any living bacteria or virus. Your body is capable of producing and breaking down many things‚ but it’s also capable of destroying itself with autoimmune
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Tourette Syndrome was first described by a French doctor named Georges Gilles de la Tourette. (Joseph‚ Kidshealth) The disease can be very hard to control depending on the severity. It can cause repetitive movements or sudden jerks such as excessive eyeblinking‚ or shrugging your shoulders and even head jerking. Tourette’s can also can cause you to say unwanted things such as offensive phrases/words or blurting out random words‚ which are typically called tics. (Tourette Syndrome‚ Mayoclinic) Tics
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affected with Down syndrome face many problems in today’s society. Whether it is unfair judgment‚ discrimination‚ or misunderstandings‚ those with Down syndrome have been subjected to cruelty. However‚ over the years‚ there has been much progress towards acceptance and equality. Many people still do not understand Down syndrome‚ which is the main source of discrimination. Perhaps with more awareness in today’s society of what Down syndrome is and what those with Down syndrome can contribute to society
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Klinefelter’s Syndrome “Harry Fitch Klinefelter specialized in endocrinology and rheumatology (weak bones) and through his studies Klinefelter’s syndrome was described in 1942‚” (Encyclopedia Britannica). The diagnosis of the patient is usually done at a young age through a series of many tests‚ one in which the doctor finds if the patient has two X-Chromosomes and one Y-Chromosome. As a random genetic mishap during the formation of the fetus‚ Klinefelter’s has many symptoms. The treatment is not
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Turner syndrome is named after Henry Turner who‚ in 1938‚ was one of the first doctors to report on the disorder in medical literature. Turner syndrome is one of the most common chromosomal disorders and is one of the most common genetic disorders found in females‚ it is a rare chromosomal disorder that affects only females. This condition occurs in about 1 in 2‚500 female births worldwide‚ but is much more common among pregnancies that do not survive to term‚ like miscarriages and stillbirths.
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Edwards Syndrome‚ also known as Trisomy 18‚ is a genetic syndrome of severe to profound mental retardation. It is caused by the presence of an extra chromosome 18 in some or all of the cells in the body. Babies with this condition typically do not survive but for a few months after birth. About sixty percent of newborns with this condition die within the first week‚ and eighty percent do not survive through the first month
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Asperger syndrome is a disability which is similar to autism‚ where people see the world in a different perspective and interact with others differently. You are born with the syndrome and have it for life as there are no cure or treatment to this disability‚ however are series of strategies and approaches to help the people. What are the main difficulties that people with Asperger syndrome encounter? People with Asperger syndrome‚ have resembling difficulties as people with Autism‚ such as having
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Munchausen’s syndrome (MS) is a difficult disorder to diagnose and treat. It is an acute form of the factitious disorder‚ which is when an individual fabricates or induces an illness to oneself for unknown reasons. Another form of this disease is Munchausen’s syndrome by proxy‚ in which a parent fabricates illness onto a child. Physicians have a difficult time to diagnose such a rare kind of disease. That’s why it’s very important that physicians‚ psychologists‚ and also social workers become more
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Graduate Research Report July 28‚ 2013 Asperger’s Syndrome: Shedding Light on the Madness Education of the Exceptional Child Graduate Research Report July 28‚ 2013 Asperger’s Syndrome: Shedding Light on the Madness In researching my topic of Asperger’s Syndrome‚ I was confused at first because of all of the information out there. Firstly‚ it is an ASD‚ otherwise known
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