Syndromes Essays

Down syndrome is a congenital disorder that comes from a defect in chromosome 21 that results in intellectual impairment and physical abnormalities (Mayo Clinic, 2014). Some parents of children with Down syndrome choose to have their son or daughter undergo cosmetic surgery to change his/her look, while some parents choose not to. Parents, who choose for their child to undergo cosmetic surgery, believe that it will be easier for their son/daughter to fit into society and not be judged. However it

The karyotype pictured is what happens when there is a full or extra pair for the chromosome 21 and that means the person has Down syndrome. Down syndrome is a genetic defect that causes developmental delays and specific physical characteristics. Some of the physical characteristics are low muscle tone, small body height, upward slanted eyes, and oddly a single deep crease across the center of the palm. Medically 40-50% have congenital heart defects, 65% have hearing issues, and 50% have vision

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: 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

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))

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

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

22q11.2 Deletion Syndrome 22q11.2 deletion syndrome, also commonly known as DiGeorge syndrome, is a congenital disorder characterised by a wide number of defects, varying in severity. Most notable of these defects include congenital heart disease, palatal deformations and hypocalcaemia due to hypoparathyroidism. Affected individuals often have cognitive or learning difficulties such as ADHD and may suffer from psychiatric disorders in later life, especially schizophrenia. Deficiencies in renal

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

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

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

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.

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

Rett syndrome (RTT) is a neurodevelopmental disorder that affects girls almost exclusively. It is characterized 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, and intellectual disability. The disorder was identified by Dr Andreas Rett, an Austrian physician who first described it in 1966. It was not until after a second article about the disorder

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

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

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

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

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.

is people with down syndrome. In the United States, about 6000 babies are born with down syndrome each year. Because of that high number, many people are interested in expanding their knowledge such as the defects of down syndrome and how it is diagnosed. Down syndrome is a chromosomal defect which results from an extra copy of chromosome 21. A human with the ‘normal’ number of chromosomes has 46 total, but because of their partial or full, extra copy, people with down syndrome have a total of 47