Syndromes Essays

  • Turner Syndrome

    2422 Words  | 10 Pages

    Turner Syndrome Turner Syndrome also known as Ullrich- Turner Syndrome or Gonadal dysgenesis, is a chromosomal disease that affects only females wherein one of the two X-chromosomes is defective or completely absent. . The name “Turner Syndrome” comes from an endocrinologist, Dr. Henry Turner, who first described the collection of findings in 1938 (Chen et al., 2006). The first published report of a female with a 45,X karyotype was in 1959 by Dr. Charles Ford and colleagues in Harwell, Oxfordshire

  • Thesis On Down Syndrome

    905 Words  | 4 Pages

    Thesis: Down syndrome is a wide range of development delays and physical disabilities caused by a genetic disorder. Down syndrome (Trisomy21) Down syndrome is also called Trisomy 21. It is a condition in which a person is born with an extra chromosome. Chromosomes contain hundreds or maybe even thousands of genes. Genes carry the information that determines your traits. (Susan Skallerup) These features or characteristics passed on to you from your parents. With Down syndrome, the extra chromosome

  • Cat Eye Syndrome

    995 Words  | 4 Pages

    Introduction Cat eye syndrome (CES) is a chromosome abnormality with an even more abnormal amount of symptoms and mystery. Being a rare disease that only effects 1: 50 000 to 1: 150 000 people, not much is currently known of CES. What will be covered of CES are the effected chromosomes, the cause, symptoms, diagnosis, and treatment of CES. Effected Chromosome Image: CES Normal Male Karyotype (Caption: Normal male karyotype shows chromosome 22 with normal short arm (22q) and long arm (22p))

  • Tourette Syndrome Essay

    757 Words  | 4 Pages

    physical or mental condition that limits a person movements, senses, or activities. Tourette syndrome: is a neurological disorder characterized by involuntary tics and often the compulsive utterance of obscenities. The definitions above will help you understand the topic of my essay, which is about people with disabilities. In our language arts class we saw a movie about a person that have Tourette syndrome and he converts in a teacher and he reach their goals when anyone is helping he. The second

  • Asperger's Syndrome Essay

    980 Words  | 4 Pages

    Asperger 's or Asperger Syndrome was first described by Hans Asperger, a Viennese pediatrician, in the 1940 's. He had observed and diagnosed four boys with Asperger 's that exhibited autistic behaviors such as difficulty with social and communication skills. Each one of them failed to demonstrate empathy with their peers. Their manner of speech either lacked coherence or was overly formal, and their conversations were dominated by narrow topics. The children also shared a tendency to be clumsy.

  • Angelman Syndrome Research Paper

    708 Words  | 3 Pages

    A Rare Disorder called Angelman Syndrome This research paper will discuss a specific disability called Angelman Syndrome. (AS) This Syndrome is a disorder, and can be diagnosed at an early age. AS don’t have a cure, but there are ways to treat this disorder. While reading this paper, you will become aware of the causes, characteristics, diagnoses, assessments and academics of Angelman Syndrome. By the end of the paper you will be able to understand how this disorder affects children and educators

  • Rett Syndrome Essay

    2224 Words  | 9 Pages

    chromosome by Ruthie Amir (1988). The National Organization for Rare Disorders (NORD) recognizes Rett Syndrome as having two basic forms: classic Rett Syndrome, and a milder form, atypical Rett Syndrome. Both are caused by various genetic mutations with the most prevalent one being a mutation on the MECP2 gene. Signs and symptoms of the disease can vary among those affected. In classic Rett Syndrome, typically babies will develop normally until about 6 to 18 months. It is at this point that parents

  • Essay On Tourette's Syndrome

    784 Words  | 4 Pages

    Tourette’s syndrome is a challenge and can be socially awkward for a person with Tourette’s. Little did we know that some of the small strange things our son was doing were actually tics and what he called an itch inside his head was a premonition. We had seen doctors before concerned about some of the movements he was doing and the “itch” and was told it was nothing, just a phase and it wasn’t until he was sent to a neurologist that we got an answer, that he had Tourette’s Syndrome. Tourette’s

  • Asperger's Syndrome Analysis

    457 Words  | 2 Pages

    Asperger’s Syndrome, an autism spectrum disorder, is “a chronic neurodevelopmental disorder of social interaction, communication, and a restricted range of behaviors or interests.” There is no exact cause because while doctors know there are changes in the brain that can cause it, they do not know what these changes are. It plays a huge role in the social skills of the people this disorder affects. Asperger’s is commonly confused and mistaken for autism but it’s slightly different in terms of certain

  • Tourette Syndrome Case Study

    1325 Words  | 6 Pages

    Charvez’Hobson General Psychology Tourette Syndrome and Chronic Tic Disorder are Associated with Lower Socio‐Economic Status: Findings from the Avon Longitudinal Study of Parents and Children Cohort Background The background evidence that I found about Tourette syndrome is that it is a chronic neuropsychiatric disorder. This disorder begins during childhood and can be characterized by a vocal or motor tics that persist for more than a year. These tics over time can vary in the frequencies over

  • Christopher Boone Asperger's Syndrome

    1640 Words  | 7 Pages

    Does Christopher Boone have Asperger’s Syndrome? Although the author, Mark Haddon, makes a point to never explain Christopher’s condition, it is very clear that he has some form of developmental disorder. Based on the details given in the novel, I have determined that Christopher has Asperger’s Syndrome. Asperger’s is considered a Pervasive Developmental Disorder or Autism Spectrum Disorder that delays the development of many basic skills, especially those related to communication and socialization

  • Marfan Syndrome Case Study

    705 Words  | 3 Pages

    Juliette Mason is a High school student who has Marfans Syndrome. She plays basketball on her high school team and her parents were worried about her due to the fact that her brother had Marfans and died from an aortic aneurysm, he also played basketball. They came to me to find out how basketball will be impacted by the disorder and how she should go forward when she eventually has children.   Marfans Syndrome is a genetic disorder that affects the bodies connective tissue in the body. Connective

  • Ehlers Danlos Syndrome Analysis

    723 Words  | 3 Pages

    much sense to me until later on. The whole appointment lasted almost two hours, but it was a very educational two hours, because in the end I found out that I not only had Scoliosis, but that I also had Ehlers Danlos Syndrome (EDS). There are three main types of Ehlers Danlos Syndrome, and I have the hypermobility type. It’s essentially a problem in your body that doesn’t allow you to produce collagen correctly. Unfortunately that affects the way my

  • Ehlers-Danlos Syndrome

    2024 Words  | 9 Pages

    Case Study of Ehlers–Danlos Syndrome Introduction This case study is about Ehlers – Danlos Syndrome. [1]Ehlers – Danlos Syndrome is a condition that cause connective tissue that cannot support the skin and it also affect the sign and symptoms of ehlers - Danlos syndrome. The person who has this type of condition (Ehlers - Danlos syndrome) there is a chance that the person can have flexible joints, stretchy, fragile skin which can lead an issue of a wound because the skin cannot heal a wound.

  • Turner Syndrome Research Paper

    894 Words  | 4 Pages

    Turner Syndrome Turner Syndrome occurs in females who lack part or all of their second X chromosome. Their genotype for sex chromosomes is XO. Almost all people (approximately 95%) with Turner Syndrome have a short stature and signs of ovarian failure. It can be treated with hormone therapies. The severity of problems caused by Turner Syndrome varies among different individuals. At its most mild, someone with Turner Syndrome could be mostly affected only in appearance and have only slight or no medical

  • Aarskog Syndrome Research Paper

    479 Words  | 2 Pages

    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

  • Down Syndrome Case Study

    1125 Words  | 5 Pages

    chromosomal division. During cell division of the cells reproduction, the 46 chromosomes should be divided into half having 23 chromosomes in each new cell. With the new cell having an extra or lacking chromosome, nondisjunction abnormalities occur. Down syndrome, being the most common abnormality, occurs with the presence of extra chromosome 21. It occurs in about 700 to 800 births. Langdon Down first described it but still with an unknown case. Chromosomal anomaly was suggested as the cause in 1932 but

  • Down Syndrome Communication Assignment

    1328 Words  | 6 Pages

    investigate Down syndrome. My Assignment is an introduction to Children with Down syndrome introducing Physical Appearance and Condition’s and Early Childhood Care and Teaching Leading to Being an Adult Living Independently. According to, Down syndrome is a congenital disorder arising from a chromosome defect, causing intellectual impairment and physical abnormalities including short stature and a broad facial profile. It arises from a defect involving chromosomes. People with Down syndrome have an

  • Usher Syndrome Case Study

    1021 Words  | 5 Pages

    Usher syndrome is a rare heterogenous autosomal recessive genetic disorder with features of visual impairment due to retinitis pigmentosa and hearing loss. Other names for Usher syndrome include Hallgren syndrome, Usher-Hallgren syndrome, retinitis pigmentosa-dysacusis syndrome, and dystrophia retinae dysacusis syndrome [1,2] Usher syndrome represents a genetically diverse condition that involves both early-onset sensorineural hearing loss and retinal pathology. While reports of disease prevalence

  • Noonan Syndrome Research Paper

    733 Words  | 3 Pages

    Noonan Syndrome Having a family member or child with an uncommon condition can be pretty extreme. When it comes to these conditions, they are usually some sort of mutation or run in the family 's genetics. Noonan Syndrome is a rare condition that affects an individual 's physical appearance, mental state, and genetic makeup, but varies in each affected person. In 1963, Noonan Syndrome was first described by a heart-specialist, Jacqueline Noonan. Of course, the condition will most likely involve