Introduction: Hurler Syndrome (MPS-I)‚ otherwise classified as Mucopolysaccharidosis‚ is the most severe form of this disease and is caused by cells being unable to break down dermatan sulfate and heparan sulfate during regular metabolism(Laberge‚ 2010). The build up of these two by-products disturbs regular cell functionality and this may cause damage within the tissues of organs (Laberge‚ 2010). Two major symptoms found within an individual with Hurler Syndrome are skeletal deformities and
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the inside. The article called “Indoor Pollution and Sick Building Syndrome Symptoms”‚ by Chi-Shan
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urinate a lot‚ always thirsty‚ and stress‚ oh no these signs and symptoms are Cushing syndrome and diabetes insipidus‚ which are Pituitary gland diseases. Then I start reading and found out that‚ Pituitary gland is a tiny organ the size of a pea found at the base of the brain behind your nose and between your ears. Pituitary gland produces a number of hormones or chemicals
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Robert’s Syndrome or Psuedo Thalidomide Syndrome is a gentic disorder with many growth delays before and after birth. This syndrome shows the malformation of legs and arms‚ abnormalalitles of the skull and facial regions. In most cases‚ it causes intelutcal disabitlly. In a case presneted‚ the parents of four children‚ the third conception had Robert’s Diesase. However the child was not diagnosed till the age of two. The only sign at birth was a cleft palate. At the age of two‚ the child was unable
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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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Central Congenital Hypoventilation Syndrome What is CCHS? Many people around the world stop breathing when they go to sleep. Why? It’s because they have a syndrome called Central Congenital Hypoventilation Syndrome or Ondine’s Curse. What is this? Congenital central hypoventilation syndrome (CCHS) is a rare syndrome‚ present from birth‚ and is defined as the failure of automatic control of breathing.. Some may only have apnea when asleep‚ but in some severe cases they may experience apnea while
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Bloom syndrome is a rare genetic disorder. Usually due to this disease a skin rash may occur after exposure to the sun‚ and chance of cancer is largely increased. A New York dermatologist named David Bloom discovered the syndrome‚ hence the name‚ in 1954. Since the discovery‚ there have been more than 170 case reports for this disorder just in the United States. There are a variety of symptoms for this disorder. Usually the first physical symptom of bloom syndrome is growth delay. Over 50% of children
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chromosomes involved in certain disorders such as Down Syndrome‚ Turner Syndrome‚ and Klinefelter Syndrome. An individual with Down Syndrome has an extra copy of chromosome 21 (“Chromosomal Abnormalities‚” par. 1). Only women can have Turner Syndrome which occurs when a female has only one X chromosome. Females with this disorder may have an array of developmental and medical problems; they are also sterile (“Turner Syndrome‚” par. 1). Klinefelter Syndrome‚ which occurs when a male has an extra X chromosome
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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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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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