Syndromes

Abstract: Marfan syndrome is a genetic connective tissue disorder caused by mutations in the FBNI1 and other genes such as TGFBR1 and TGFBR2. The syndrome affects the skeletal system, the cardiovascular system, the ocular system, and respiratory systems. Marfan syndrome has a significant mortality rate and it extremely difficult to diagnosis. The syndrome currently does not have a set treatment aside from surgery and though recent technological advancements have decreased the mortality rate, many

wonder or questioned the disorder of down syndrome? According to many National Down Syndrome Society within the United States, Down syndrome has occurred one out of eight hundred births. It is the most frequent form of mental retardation and characterized by well-defined events and distinctive features. It’s a lifelong disorder caused by a genetic defeat that’s none curable. It takes people with patients and kind hearts to care for people with Down syndrome disorder. History In the late nineteenth

Turner syndrome, also known as Monosomy X, is caused by the deletion of the second X chromosome in females. This can be a partial deletion or a complete deletion. It is caused by a random error called nondisjunction, which is “the failure of sister chromatids to separate during or after meiosis” (Biology Online, 2008). This can lead to an abnormal amount of chromosomes. In this case, it leads to an abnormality in the sex chromosomes leaving the woman with one functioning X chromosome. While the specific

Asperger’s syndrome, which is also referred to as Asperger's disorder, is a type of Persuasive Developmental Disorder. Persuasive Developmental Disorder or PDD are a group of conditions that involve delays in the development of basic skills, the most recognizable of these skills is the ability to communicate and socialize with others as well as use their own imagination. Although Asperger's syndrome is similar in some ways to autism, there are important differences between the two. Children with

client in the case scenario is potential to evolve into the Marfan syndrome (MFS). According to the Marfan Foundation the diagnosis of Marfan syndrome based on a set of defined clinical criteria which are known as the Ghent nosology and systemic score. These criteria help to facilitate accurate recognition of the syndrome. The 2010 Revised Ghent Nosology for Marfan syndrome relies on seven rules which are based on the Marfan syndrome based on the two criteria: Four from the absence of family history

Down syndrome is a cell malfunction that affects people on a day to day basis all across the world. Down syndrome is a condition in which a person has all or some of the third copy of chromosome 21 present. There are three types of Down syndrome. The first one is called trisomy 21, the second one is called translocation Down syndrome, and the third one is called mosaic Down syndrome. Down syndrome is the number 1 genetic condition in the United States and there is an excess of 350,000 people living

Approximately one in every 700 babies in the United States is born with Down syndrome, that makes approximately 6000 babies born each year with Down syndrome. Although physical and cognitive traits are affected by this genetic disorder, individuals can attend school, work, participate in decisions that affect them, have meaningful relationships, vote and contribute to society in many wonderful ways. II. Thesis: Down syndrome is the most common genetic disorder in the United States and it accounts for

Tourette Syndrome Tourette syndrome is an inherited severe neurological disorder usually occurring before the age of eighteen and is associated with a degree of facial and body tics sometimes accompanied by random declarations of phrases or obscenities (2,3). The facial and body tics associated with the disorder can be painful and even embarrassing. Involuntary body movements such as jaw snapping, gyrating, hopping, and obscene gesturing are to name a few (1). Tourette Syndrome was named

Turner syndrome is a chromosomal condition that affects development in females. The most widely recognized element of Turner syndrome is short stature, which gets to be obvious by about age 5. An early loss of ovarian function (ovarian hypofunction or premature ovarian failure) is likewise extremely common. The ovaries grow ordinarily to begin with, however egg cells (oocytes) generally kick the bucket rashly and most ovarian tissue ruffians before birth. Numerous young ladies don't experience puberty

Marfan’s syndrome is a rare hereditary disorder of the body’s connective tissue. The phenotypic traits include being tall, abnormally long stretched limbs and in the most severe cases the aorta can be prone to rupture and retinal detachment can occur [1]. Seventy five percent of cases for this multisystem disorder are genetic and inherited in an autosomal dominant fashion (a child can inherit it from just one parent): 25% are sporadic where neither parent has the syndrome [2]. Its prevalence is 1/5000