Karen Trescott
November 21, 2013
Biology Lecture
Marfan Syndrome
Often times there are many disorders that are very deadly and tragic. Marfan syndrome is one of those diseases that no parent wants to hear their child have. In general, Marfan syndrome is a genetic condition that can lead to fatal aortic aneurysms. There are many causes and ways to treat it, but in most cases when Marfan syndrome is diagnosed there is very little that care providers can do. In the future there is hope that since the disease is known about now, that it will be able to be seen before birth and treated while in the mother. As for now, it will just be a disease that will need to be studied more thoroughly (Milner).
Marfan syndrome is not the most common disease, but it affects a majority of the body. Marfan syndrome s a mutation in the connective tissue in the body. This can be a very big issue because connective tissue is in every region of one's body so it can develop and spread to numerous spots. More specifically, it controls how the body makes fibrillin which is a protein that affects the “transforming growth factor beta” which creates features and medical problems all throughout the body. (What is Marfan Syndrome). People with Marfan syndrome have a 50% chance of passing it to their child, but in about 1 in 4 cases, it is not an inherited disease and said person is the first in their family to have it.
There are many physical features that are greatly affected when a person has Marfan syndrome. One of these is a tall and thin build, along with long arms, legs, fingers, toes,and many other flexible joints. This is mainly because the connective tissue around the body is affected so the body is unable to grow as it would normally. Other issues that an affected person may deal with are scoliosis, pectus excavatum, and pectus carinatum. The last two are when the chest sinks in or sticks out, respectively. The traits vary from person to person even if they are in the...