Rett Syndrome: Important to Diagnose Imagine this‚ you are enjoying the Christmas holiday at your grandparents with your aunts‚ uncles‚ and cousins. You think nothing of it because it is a completely normal thing to do. This is the first year all of my cousins were together in about three years. I introduced my boyfriend‚ Devin‚ to my other cousins he hadn’t met yet. As we were talking‚ I grabbed a plate of snacks when my five year old cousin walks up to me. She did not say anything just stared
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Horner’s Syndrome Anatomy and physiology Horner’s syndrome is a rare condition that targets the nerves in one’s eyes and face. Horner’s syndrome is caused by any type of interruption in a pack of nerves that begin in a part of one’s brain that is called the hypothalamus and it travels to one’s face to their eyes. Horner’s syndrome’s symptoms include‚ drooping eyelips‚ and small constricted pupil. In an eye examine one’s eye may have changed in the way one’s pupil opens and closes or
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Rett’s Syndrome What is Rett syndrome? Rett’s syndrome is a neurodevelopmenal disorder that for the most part only affects women. Infants with Rett syndrome seem to grow and develop normally at first‚ but then stop developing and even lose skills and abilities. Rett’s Syndrome can be summed up by normal early growth and development followed by a slowing of development‚ loss of purposeful use of the hands‚ distinctive hand movements‚ slowed brain and head growth‚ problems with walking‚ seizures
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Marfan syndrome or not‚ which was eventually resolved when Lincoln actually inherited a disease called Multiple Endocrine Neoplasia Type 2B. Contributing to the dispute of Marfan syndrome in Abraham Lincoln‚ in 1964 a physician published his findings and observations in the Journal of the American Medical Association which diagnosed Abraham Lincoln that he had Marfan syndrome (Kugler). However‚ his conclusions were eventually proven wrong. But despite the false accusations‚ Marfan syndrome does exist
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Asperger’s Syndrome “John Robison has longed to connect with other people‚ but by the time he was a teenager‚ his odd habits—an inclinations to blurt out non sequiturs‚ avoid eye contact‚ dismantle radios‚ and dig five-foot holes (and stick his younger brother in them)—had earned him the label “social deviant’”( Robison‚2007). John Robison was diagnosed as having an Asperger’s Syndrome. People living with Asperger’s Syndrome have varying complications from the syndrome. Some complications people
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Genetic Project: Down Syndrome What is Down Syndrome? Down Syndrome is a chromosomal disorder where a child is born with an extra partial or full chromosome 21‚ thus leading to the over-expression of many genes present on this extra chromosome. Therefore‚ it is neither dominant nor recessive. Down Syndrome affects about 1 in 700 babies born‚ making it one of the most common genetic birth defects in the United States. There are actually 3 different types of Down Syndrome‚ Trisomy 21 (Nondisjunction)
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Aarskog Syndrome Description Aarskog syndrome (also known as Aarskog–Scott syndrome‚ faciodigitogenital syndrome‚ shawl scrotum syndrome and faciogenital dysplasia) is a rare autosomal X-linked inherited disorder that affects a person’s height‚ muscles‚ skeleton‚ genitals‚ and appearance of the face. It mostly affects at birth and the symptoms usually become apparent by the age of 3years. Unfortunately‚ Aarskog syndrome is a lifelong condition without a cure. Some people with Aarskog syndrome are born
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Prognosis The prognosis for Williams Syndrome is not bright in some areas and bright in others. Since there is no cure for this genetic disorder‚ treatment in no way can change the prognosis unless it is to alleviate a symptom of this disorder. Cardiovascular symptoms aside‚ individuals suffering from this disorder can live a healthy and long life if properly cared for and nurtured‚ but this is very rare. There are several ways to discuss the prognosis for this disorder and they are: life expectancy
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Asperger’s syndrome and the adverse effects of stigmatization 2 INTRODUCTION The Center for Disease and Control estimates that‚ “1 in 88 children has been identified with Autism Spectrum Disorder” and shows a 78% increase since 2007 (CDC‚ 2012). However‚ many children with Asperger’s are often misdiagnosed with mental illness‚ such as bipolar disorder or ADHD. A man named Sean Honeysett was misdiagnosed for nearly two decades‚ was prescribed anti-psychotic drugs‚ and was in and
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Fryns syndrome is a rare congenital disorder that affects the development of the body and is characterized by coarse facial features‚ diaphragmatic hernia‚ pulmonary hypoplasia‚ distal digital hypoplasia‚ and other various associated anomalies.. There is a 25 percent risk of recurrence and the prevalence of Fryns is 0.7: 10‚000 births in France [2]. It affects 1:15‚000 live births [3]. J. P. Fryns first described Fryns syndrome in 1979. It was first described with two still born female siblings
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