Essay On 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.

Noonan Syndrome is a genetic disease caused by a genetic mutation and is developed when a child inherits a copy of an affected gene from a parent with dominant inheritance. Noonan syndrome can also happen with spontaneous mutation. The mutated genes related to Noonan syndrome are PTPN11, SOS1, RAF1, KRAS, NRAS, and

Marfan syndrome is a histological disorder that specifically deals with one of the four primary types of tissue known as connective tissue. Marfan syndrome is also considered an autosomal dominant disease, meaning this disorder requires only one parent or donor to carry the abnormal gene for it to be inherited in the offspring. The inheritance of the abnormal gene is the biological basis or genetic trigger that results in a mutation that occurs in the gene named fibrillin-1, or short FBN1. The respective location of gene FBN1 is on chromosome 15. Function of the FBN1 gene includes storing the blueprints for making the glycoprotein fibrillin-1, which is a component of many tissues. When produced, the fibrillin-1 protein exits the cell via transport

Marfan syndrome is one of these genetic disorders. It is a deletion on chromosome 15. Marfan syndrome is a disorder when a person’s connective tissues do not function correctly. Mutations in the gene that codes for the protein, fibrillin-1, cause the body to produce less of fibrillin-1. This lack of protein cause a different protein, TGF-Beta, to increase its production. This is what leads to problems within the connective tissues and the

Marfan syndrome is a very common inherited disorder of connective tissue. It is an autosomal dominant condition occurring one in every 10,000 to 20,000 people . There is a wide variaty in clinical symptoms in Marfan syndrome with the most occur in eye, Bones, connective tissue and cardiovascular systems.

However, cautious medical management can help prolong and make better the prognosis of someone with this genetic condition (Turkington 2004). In order to prevent life threatening symptoms, refraining from physical activity should be considered because it will prevent any stress being put on the aorta. An annual test called, Echocardiogram, should be scheduled because it can monitor the function and size of the aorta and heart (Turkington 2004). Another treatment involving the cardiovascular system is the removal and replacement of the aortic root. This procedure decreases the chances of getting heart disease if you are afflicted with the disorder (Adamec 2005). If problems with the eyes is a symptom developed with Marfan syndrome, eye exams with an ophthalmologist should be periodic and regularly (Turkington

Marfan syndrome is one of the most common inherited disorders in the human body. It is an autosomal dominant condition that is caused by the mutation in the FBN 1 gene. There are many different symptoms of Marfan syndrome, some include: nearsightedness, overgrowth in the rib bones, and unusually long arms and legs. Marfan syndrome can be inherited when at least one parent has the Marfan syndrome genetic disorder. Their child has a one out of two chance of having Marfan syndrome. Treatment for Marfan syndrome can be relatively easy. Medication and glasses can be used to treat nearsightedness. Treatment, however, can also be hard. Surgery will be required for skeletal problems in the body.

Marfan’s Syndrome (MFS) is a multisystem autosomal dominate disease. Mutations to the FBN1 gene account for this disease. Approximately 75% of all cases of FBN1 mutations resulting in marfan syndrome are inherited the remaining cases are caused by spontaneous mutations to the gene. There is a magnitude of different mutant variations that cause MFS. Recent genotype-phenotype studies have shown the impacts of the type and location of the mutations have on phenotype.

Marfan Syndrome is a disorder that affects the body’s connective tissue. Connective tissue holds all of the body’s cells, organs and tissues together. When the connective tissue is affected it slows down growth and breaks down muscle strength. Connective tissue is also considered the glue of body because its purpose to hold all bones, muscles and joints together. It also plays an important role in overall growth in muscles and bone. A French doctor named Antoine Marfan discovered the disease in 1896. About 1 in every 5,000 children are born with Marfan Syndrome each year and it affects both men and women.

Marfan Syndrome is a genetic disorder that will affect different parts of the body through the connective tissue. The connective tissue is important because it helps you get strength to move, to have muscles, and lets blood run through your vessels, etc. The part of the body in which is most affected would be the eyes, blood vessels, and also the skeletal regions such as the spine. This can also affect what you can do in life because it can cause breathing complications (Deitz et

Every person’s experience with Marfan syndrome is differently. Person with this disorder has every feature or different combinations of features. Some features of Marfan syndrome are easily visible. These include long limb size, tall and thin body type, curved spine chest sinks in or sticks out, flexible joints, Flat feet, Crowded teeth, Stretch marks on the skin that are not related to weight gain or loss. In addition to that some most common but not visible are heart problems, especially those related to

I enjoyed reading your post on Marfan syndrome (MFS). I concur with your diagnosis of Marfan syndrome for the 15-year old male in case study #4. According to Timble, and Saal (2013); Yip and Sawatzky (2014), Marfan syndrome is a genetic autosomal dominant ailment and multi-organ syndrome of the connective tissue with widespread clinical variations, that distress about 1 in 5000 individuals. Marfan syndrome principal characteristics comprise that of musculoskeletal, cardiovascular and ocular systems and related to its extensive gradation of variation, arrays of the clinical characteristic could exhibit at natal, or evident subsequent in childhood and at maturity (Timble & Saal, 2013).

Echocardiography (echo) is a common procedure used by medical practioners to observe a patient’s heart. Also known by the term heart ultrasound, it is a medical procedure that takes a dynamic image of the heart with sound waves. This test makes use of certain physical principles to create pictures of your heart's movement, while providing unique information as compared to what a standard ECG might produce; however, like most other medical procedures, there are risks associated with some forms of this test.

The disorder Marfan Syndrome was discovered in 1896. It was discovered by the French doctor Antoine Marfan. Some of the more serious symptoms are collapsed lungs, scoliosis, intense back pain, and heart complications. Some heart complications that can arise from the disorder are having a mitral valve prolapse and heart murmurs. Some of the ways Marfan Syndrome affects you physically are having a bulging or sunken chest, a tall or slender build, abnormally long limbs, double jointedness, stretch marks, and teeth crowding. It can also cause small pupils, blurred vision, nearsightedness, fatigue, flat feet, and high blood pressure.

Marfan syndrome is a genetic disorder that affects the body’s connective tissue1. It can present as a variety of phenotypes that affect the skeletal, cardiovascular and occular systems. Arachnodactaly, scoliosis, pectus excavatum or pectus carinatum, crowded teeth, aortic problems and myopia are all common presentations1.