Marfan Syndrome - 1003 Words

Marfan Syndrome Have you ever wondered about the diseases that you can get from your parents? One of these major diseases that can change someone’s life is called the Marfan Syndrome. Marfan Syndrome is a disorder of connective tissue that is inherited from the parents. The bones and circulatory system are usually the parts of the body that are longer and the ones that are changed because of the disease. There are many things that can cause a disease. Marfan syndrome is caused by a mutation in the fibrillin-1 gene. The gene produces a protein that is essential for formatting the elastic fibers found in connective tissue. About 75 percent of people with Marfan syndrome inherit the mutation from one affected parent. A parent who has†¦show more content†¦Examples of organ systems that are affected by Marfan Syndrome would be the Skeletal system, the muscular system, your heart and you blood vessels. It would affect your bone by making you very tall, slender, and loose jointed. You’re Arms, legs, fingers, and toes may be disproportionately long in relation to the rest of the body because Marfan syndrome affects the long bones of the skeleton. A person with Marfan syndrome usually has a long, narrow face, and the roof of the mouth may be arched, causing the teeth to be crowded. It weakens and stretches your muscles and begins to place weight on the vertebrae in the lower s pine. It would also start to wear away the bone surrounding the spinal cord. It would also make your heart weaker and more vulnerable to damage and kill the person with the disease. It would then affect your blood vessels by making the large artery that carries blood from the heart to the rest of the body, weak and it will stretch. Then because of this it will increase the risk that the artery will erupt and if it does it will cause serious heart problems or sudden death. Our Lives are very short and when you have a disease it makes your life even shorter. People with Marfan Syndrome have to face this catastrophe everyday of their lives. Wondering when they will die because of their disease. If I had a genetic disease, I would be very sad and not happy because I would wonder when I would die. The people who don’tShow MoreRelatedEssay on Marfan Syndrome 2085 Words   |  9 PagesMarfan syndrome is a primarily an autosomal dominant disorder that affects 1 in 5000 people worldwide. Marfan syndrome is connective tissue disorder that results in a mutation in the Fibrillin 1 gene. The life expectancy of an individual with Marfan syndrome is close to normal with early detection, but Marfan syndrome still remains underestimated due in large part to characteristics similarities that are common in general public. This is compounded by the 25 percent of individuals with a new geneRead MoreTaking a Look at Marfan Syndrome625 Words   |  3 Pages Marfa n Syndrome, which is named after Antoine Marfan who first described the disorder in 1896, is a genetic disorder that affects the connective tissues found throughout the body. This syndrome can affect many different parts of the body, but the most commonly affected are the heart, blood vessels, bones, joints, respiratory system, nervous system, and eyes. Thankfully, a person’s intelligence is never affected. Marfan syndrome affects people from all races and ethnic backgrounds, and this oftenRead MoreMarfan Syndrome Research Paper2511 Words   |  11 Pagescalled Marfan syndrome or not, which was eventually resolved when Lincoln actually inherited a disease called Multiple Endocrine Neoplasia Type 2B. Contributing to the dispute of Marfan syndrome in Abraham Lincoln, in 1964 a physician published his findings and observations in the Journal of the American Medical Association which diagnosed Abraham Lincoln that he had Marfan syndrome (Kugler). However, his conclusions were eventually proven wrong. But despite the false accusations, Marfan syndrome doesRead MoreEssay on Marfan Syndrome: The Case of Joey Jones1866 Words   |  8 PagesJoey’s younger brother is also quite tall for his age. DIAGNOSIS: The diagnosis for this patient is Marfan Syndrome (MFS). EVIDENCE FOR SUPPORT: The patient does not have enough features to be diagnosed with Marfan syndrome based on the diagnostic criteria for this condition [The revised Ghent nosology for the Marfan syndrome]. However, the patient fits the diagnostic criteria for Ectopia Lentis Syndrome (ELS). The literature shows that a diagnosis of ELS and the presence of a personal or a family historyRead MoreGenetics Synthesis: Marfan Syndrome Essay1514 Words   |  7 PagesMarfan Syndrome Marfan Syndrome is an autosomal dominant disorder mainly caused by defects in the gene FBN1 that codes for the protein fibrillin. Approximately 1 in 5,000 people are affected. Cardinal features involve the ocular, musculoskeletal, and cardiovascular systems. There is a high degree of variability of this disorder, sometimes presenting itself at birth or later in childhood or adulthood. On one end of the spectrum is severe neonatal presentation with rapidly progressive diseaseRead MoreMarfan1540 Words   |  7 Pages------------------------------------------------- MARFAN SYNDROME ------------------------------------------------- BY MELISSA STEVENS May 22, 2014 southeastern college Abstract Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly. About 1 in 5,000 people have Marfan syndrome, including men and women of all races and ethnicRead MoreWhy The Nurse Interacts With A Family Managing A Chronic Illness1302 Words   |  6 Pagessituations revolving around illness may enhance the family’s confidence and improve self management (Wright and Leahey, 2013). These components will be explored and discussed regarding the family structure of two sisters, R.C. and J.A. R.C. has Marfan syndrome and J.A. is an active participant in helping her sister manage her condition. This family structure will be discussed in relationship to their family management style, their individual and family risk factors, and their management of R.C.’s chronicRead MoreThe Six Types Defined By Ehlers Danlos Syndrome1768 Words   |  8 Pages Ehlers-Danlos Syndrome consists of a range of rare diseases that all involve errors in the way the body synthesizes collagen or the agents that interact with it (Levy, 2004). Over the years, researchers have identified ten different syndromes that are classified under Ehlers-Danlos Syndrome, but there are many other types that are both rare and poorly defined in medical literature (Levy, 2004). The six types defined by the Villefranche nomenclature are as follows: Classical Type (further dividedRead MoreAwareness Of Sudden Cardiac Death In Youth Athletes.. ​Coresa1451 Words   |  6 Pageswith subsequent fibro-fatty replacement. †¢ Marfan Syndrome is an autosomal dominate genetic disease characterized by the progressive dilation of the aortic root or descending aorta, which can cause dissection and rupture of the aorta. Patients with Marfan syndrome present with skeletal abnormalities such as an arm span-height ratio 1.05, hyperextensibility and ligamentous laxity, scoliosis, and chest wall deformities. The prevalence of Marfan syndrome is about 1 in 5000-7000 people. †¢ MyocarditisRead MoreFactors Affecting Human Development During Phases Of Meiosis And Mitosis2070 Words   |  9 Pagesseen in these five examples of genetic inheritance conditions discussed in this paper: Down syndrome, Patau’s syndrome, Edward’s syndrome, Klinefelter syndrome, and Turner’s syndrome. The Mendelian principles of genetics developed by Gregor Mendel include the patterns of autosomal recessive and autosomal dominant. Autosomal dominant and recessive inheritance patterns can cause disorders such as: Marfan syndrome and Huntington disease from the inheritance of dominant alleles, and cystic fibrosis and