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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Tics and Tourette’s Syndrome Tics are sudden‚ uncontrollable movements or sounds that are repeated. Tourette’s is a distinct form of Tic‚ which involves repeated movements and sounds. Tourette’s Syndrome is a neurological disorder‚ affecting the Central Nervous System. Disorder is named for Dr. Georges de la Toilette‚ a French neurologist. In 1885‚ he first diagnosed an 85-year-old French noblewoman. Research suggests that Tourette’s syndrome is caused by unknown abnormalities in the cortex and
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Klinefelter syndrome‚ also known as the XXY condition‚ is a term used to describe males who have an extra X chromosome in most of their cells. Instead of having the usual XY chromosome pattern that most males have‚ these men have an XXY pattern. Klinefelter syndrome is named after Dr. Henry Klinefelter‚ who first described a group of symptoms found in some men with the extra X chromosome. Even though all men with Klinefelter syndrome have the extra X chromosome‚ not every XXY male has all of those
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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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INTRO Prader-Willi syndrome or PWS‚ is not a disease many people have knowledge about‚ or have even heard about it. Only about 1 in 25‚000 children are born with this rare syndrome. In 1956‚ Prader-Willi was first described by Andrea Prader‚ Heinrich Willi‚ and Alexis Labhart. Prader and Willi‚ both Swiss pediatricians‚ and Labhart‚ an internist‚ were the first people to publish a report on this syndrome (Nord‚ 2015). In the research‚ they described characteristics observed of the affected children
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Metabolic Syndrome: A Precursor of Heart Disease In 1988‚ Dr. Gerald Reaven was awarded the Banting Medal for Scientific Research by the American Diabetes Association and introduced the term Syndrome X to the medical community. According to Dr. Reaven‚ “Syndrome X is a simple way to refer to a cluster of changes that encourage the onset and development of heart disease.” (Reaven‚ 2000‚ pg. 40) The medical terms Syndrome X‚ Insulin Resistance (IR)‚ or Metabolic Syndrome (MetS) have been used interchangeably
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heart condition known as‚ Long QT Syndrome. Long QT Syndrome is a condition that causes the heart to have fast or chaotic heartbeats. The fast and chaotic heartbeats can trigger fainting spells and seizures. If the heart beats erratically for too long it can cause sudden death. Dana Vollmer began swimming at very young age. At age twelve‚ Dana became the youngest person to be in the Olympic swimming trials. She was taken to the doctor and diagnosed with Long QT Syndrome at age fourteen after experiencing
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Abstract Klippel-Feil Syndrome (KFS) is a rare congenital condition characterized by the abnormal fusion of two or more vertebrae in the cervical spine. This results from a failed division in the vertebrae during the early weeks of fetal development. Although KFS is present at birth‚ milder cases can go undetected for years until symptoms worsen. The various symptoms that accompany KFS can vary from slight to extreme due to the wide possible range of severity of the fusion. For those who suffer from
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