Marfan syndrome is an inherited disorder of the connective tissue that causes abnormalities of a child's eyes, cardiovascular system, and musculoskeletal system marfan syndrome affects three major organ systems of the body: the heart and circulatory system, the bones and muscles, and the eyes. Because marfan syndrome is a connective tissue disorder, symptoms can involve many different parts of the body someone with marfan syndrome is usually very tall, thin, and loose-jointed when they stretch out their arms from their sides, their arm length from one side to the other is greater than their. Essay on shaken baby syndrome shaken baby syndrome shaken baby syndrome is a simple descriptive for a disturbing cluster of subdural and subarachnoid hemorrhage, traction type metaphyseal fractures, and retinal hemorrhage seen in children due to the act of violently shaking the child (miehl, 2005. Marfan syndrome description essay - marfan syndrome is a genetic disorder that affects the connective tissue in the human body connective tissue, which is composed of many proteins, is found all over the body and is responsible for a number of things.
Marfan syndrome is a rare, inherited disease of the connective tissue about 70 percent of all marfan syndrome cases are inherited the primary purpose of connective tissue is to hold the body together and provide a foundation for growth and development in marfan syndrome the connective tissue is. Marfan syndrome refers to congenital anomalies with autosomal-dominant inheritance the underlying condition of the incompetence is the mutation of the fbn1 gene, which is answerable for the synthesis of fibrillin, the constructive protein of the intercellular matrix, which allows resilience and contractility of the connective tissue. Getting diagnosed marfan syndrome is a serious, potentially life-threatening condition, and an early, accurate diagnosis is essential, not only for people some of the features of marfan syndrome can be found in disorders related to marfan syndrome therefore, genetic testing may be helpful when a. Marfan syndrome is primarily a disorder of the connective tissue in the human body - connective tissue being the cement that holds the body in place.
Marfan syndrome marfan syndrome research papers discuss how this disorder develops and other causes of this disorder while it would appear that the process of reproduction is a simple one, the mechanism by which healthy offspr. Marfan syndrome essays marfan syndrome is a genetic disorder in which effects the heart and blood vessels spine, chest, and joints and the eyes the heart abnormalities associated with the disorder are the most life threatening. Marfan syndrome is, like stated above, a genetic mutation affecting the 15 th chromosome it is generally passed from parent to offspring during meiosis, but ,like any other disease, can affect anyone marfan syndrome affects the connotative tissue, the tissue that holds the body's cell and tissues. Abstract marfan syndrome is a systematic disorder of connective tissue caused by mutations in the fbn1 gene, causing complications outside and within the body (judge and dietz, 2005.
In 1896 antoine marfan, a french doctor, discovered marfan syndrome when he had a patient as a boy who was fourteen years old (the patient), wanted to always become a basketball champ or at least a player but his coach didn't like the way he looks so the fourteen year old boy went to see dr marfan. Marfan syndrome is an autosomal dominant disorder, affecting approximately one in ten-thousand people its affects both males and females although marfan syndrome shows pleotrophism and clinical variability, there are several commonalities among phenotypes of affected individuals. Marfan syndrome is an autosomal dominant genetic disorder, and in most cases transmitted from parent to offspring (niams, what causes marfan syndrome) therefore, one of the cardinal features of the disorder is a family history. 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. Essay on marfan syndrome disorder that affects a particular gene is marfan syndrome marfan syndrome is an inherited disorder which alters the connective tissue in the body (frey r, sims j, 2010.
Marfan syndrome is caused by a change in the gene that controls how the body makes fibrillin, an essential component of connective tissue that contributes to its strength and elasticity in most cases, marfan syndrome is inherited from a parent, but 1 in 4 cases occurs in people with no known family. Statistics on marfan's syndrome marfan's syndrome is one of the most common autosomal dominant inherited disorders of connective tissue it is thought to affect approximately 1 in 5000 people worldwide, most of who get the disorder passed on from their family. Essay digeorge syndrome- a genetic disorder 952 words | 4 pages a genetic disorder, such as digeorge syndrome, is an illness caused by one or more abnormalities, which can be passed down through parents, dna, or mutations. Marfan syndrome is a birth defect birth defects are health conditions that are present at birth birth defects change the shape or function of one or more signs and symptoms of marfan syndrome are different for everyone sometimes they appear when a child is very young, or they may not show up. Marfan syndrome is a disorder that affects the connective tissue in many parts of the body connective tissue provides strength and flexibility to structures because connective tissue is found throughout the body, marfan syndrome can affect many systems, often causing abnormalities in the heart, blood.
Marfan syndrome wesley thompson jim hutchins biomedical core 1110 november 19, 2011 marfan syndrome is a variable, autosomal-dominant disorder in the connective tissue with distinct physical characteristics the principal features affect the cardiovascular system, eyes and skeleton. Essay about marfan syndrome cancer: acute myeloid leukemia anp1120 6-13-13 cancer: acute myeloid leukemia acute myeloid leukemia abbreviated aml (abbreviations are used to simplify the term [txt bk pg 7 ch 1]) is a cancer of the blood and the bone marrow in the body. Marfan syndrome is equal on both men and women and affects all religion and races approximately, one in every 5,000 people are born with marfan syndrome marfan syndrome is genetic the defective gene called fibrillin-1 is responsible for building support and strength to the connective tissue.
Marfans syndrome is a disorder of connective tissue marfans syndrome effects the skeleton, lungs, eyes, heart, and blood vessels it can also effect men and. Marfan syndrome is a disorder involving the body's connective tissue connective tissue has many important functions, including the following: assisting with growth and development of the body's cells, both before and after birth. To be exact in what marfan syndrome is a genetic disease that usually is caused because one or both of the parents had marfan syndrome as well the trait for marfan syndrome is dominate, so even if only one parent has the disorder, there's a chance that the child also will have the disorder. Marfan syndrome (also known as marfan's syndrome) is a disorder that affects the connective tissue that strengthens and stabilises your joints and muscles it generally affects the limbs, but can also affect the spine, sternum, eyes, heart and blood vessels.
Marfan syndrome ( mfs ) , named after antonine-bernard marfan, professor of pediatrics in paris, is classified as an autosomal dominant familial connective tissue upset caused by defects in the cistron encoding fibrillin-1, which is indispensable for the formation of elastic fibres and microfibrils.