A connective tissue disorder, Marfan syndrome affects the eyes, skin, skeletal system, and the cardiovascular system. This is a fibrillin-1 gene condition where defects in that gene causes the long bones of the skeleton to have too much growth. Other areas that are affected are the skin, spinal cord tissue, eyes, aorta, and the tissue in the lungs. It is an inherited condition in 70 percent of the cases.
Symptoms
Some of the signs include flat feet, funnel chest or pigeon breast, crowded teeth and highly arched palate, hypotonia, too flexible joints, thin and narrow face, scoliosis, small lower jaw, nearsightedness, learning disabilities, and dislocation of the eye lens.
Diagnosis
During a physical exam and eye test the doctor will look for collapsed lungs, heart valve issues, aneurysm, hypermobile joints, vision problems, cornea or eye lens defects, and retinal detachment. Other tests that may be run are the fibrillin-1 mutation test and an echocardiogram.
Treatment
People with this syndrome have their vision difficulties treated and are monitored for their scoliosis. There can be medications given for the heart problems and later may need surgery. They will be taking antibiotics whenever they have dental work done. Those with Marfan syndrome are monitored when pregnant.
Some of the complications include mitral valve prolapse, heart failure, aortic regurgitation, and aortic rupture. The prognosis is good, with lifespans in the 60s. Quality healthcare, surgery, and careful monitoring can help patients live a longer life. Careful monitoring is needed for those with heart difficulties.
Source: A.D.A.M.