Marfan Syndrome
A: this disease is a disorder of connective tissues that strengthen the body’s structures, it affects the skeletal system, as well as cardiovascular system, eyes, and skin.
B: It was first described and basically discovered by Dr. Marfan Gu in the late 1800’s, 1896 to be exact. One out of every 5,000 people are born with it.
C: People with Marfan’s syndrome usually are tall, with long thin arms and legs, and spider-like fingers, when they stretch out their arms, flat feet, joints that are too flexible, hypotonia, learning disability, nearsightedness, thin narrow face, highly arched palate and crowded teeth, small lower jaw, spine curves to one side, chest that sinks in or sticks out.
D: The gene that causes this disease to occur is Fibrillin -1, it’s the ‘building block’ for making elastic tissue in the body. It is dominant, the chromosomes involved are chromosome pairs one through twenty two.
E: When doctors test someone who may have Marfan’s syndrome, they put the patient through a physical exam. Hyper mobile joints or signs of aneurysm, collapse lung, or heart valve problems are possible indicators. They may also put them through an eye exam which may show defects in the lens or cornea or retinal detachment
F: Treatments include eye care when possible, medicine to slow heart rate to put less stress on their aorta, antibiotics before dental appointments to avoid the possibility of endocarditis, and pregnant women with Marfan’s should be monitored carefully lower the stress level on her heart and aorta.
G: So far there have been no solutions to prevent Marfan’s disease but doctor’s say and early diagnosis can help deter serious ‘complications’ later in life.
H: Scientists are conducting many experiments regarding this disease, like factors that cause heart and blood vessel problems, defects in the filibrim
http://www.chp.edu/CHP/P02112
http://emedicine.medscape.com/article/946315-overview
http://www.nlm.nih.gov/medlineplus/marfansyndrome.html
http://www.marchofdimes.com/birthdefects_marfan.html
http://www.marfan.org
