Definition of Marfan Syndrome: Who it Affects, Signs and Symptoms

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Marfan Syndrome
• Definition of Marfan Syndrome 
This is a genetic disorder that affects the body’s connective tissues. Generally connective tissues are the body cells that hold the body organs together and also play a vital role in the growth and development of the body. The connective tissues are largely made up of proteins; with the most important protein that cause the syndrome being the fibrillin-1 (Marfan Foundation).
‘Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1. This mutation results in an increase in a protein called transforming growth factor beta, or TGF-β. The increase in TGF-β causes problems in connective tissues throughout the body, which in turn creates the features and medical problems associated with Marfan syndrome and some related disorders.’ (Marfan Foundation)
• Who it affects
One of the most important aspects to note is that this is a condition that affects women, men and children. As such, it cannot be said to be selective with reference to age. At the same time it also affects people from all races, meaning that it is a condition that can affect anyone. However, there is one binding factor that makes the disease unique, relative to the persons that it affects; the syndrome is actually hereditary (Marfan Foundation). This means that, persons that have the syndrome are highly likely to pass it on to their children. In most of the cases, it has been found that the syndrome can actually be inherited from one parent. Ideally, the syndrome is considered to be autosomal dominant, meaning that whichever of the parent has the syndrome in the genes, will pass it on to the child. It does not rely on the dominance in one parent and being recessive in the other parent. With the above conditions considered, as far as one parent has the gene, even if the parents in this case are from different races, this does not have an impact. Genetically, this means that there is a 50% chance that a child that is born from a single parent with the syndrome even, will inherit the syndrome and further pass it on to their children (Emedicine.medscape.com). In the parents that do not have the syndrome, the gene may mutate for the first time in the ova or the sperm, which is then passed on to the child and goes to be developed into the syndrome. This then is passed on for generations.• Signs and symptoms
Much like the element of genetic variance in the population, the syndrome also manifests in different people with varying degrees. Every person`s experience with the syndrome is much different from the next. At the same time, not all the signs or symptoms will be exhibited in a single person and some of the signs are actually harder to notice than other (Emedicine.medscape.com). The most co...