More than 30 different signs and symptoms are variably associated with Marfan syndrome. The most prominent of these, affecting the skeletal system, are found in numerous other diseases. Thus, it is not possible to make a diagnosis of Marfan syndrome simply by the person's appearance. Instead, distinguishing Marfan syndrome from other syndromes requires the assessment of non-skeletal clinical and laboratory findings, especially of the eyes, aorta, and heart.
Physical Appearance
People with Marfan syndrome are often very tall and thin. Their arms, legs,
fingers and toes may seem out of proportion, too long for the rest of their
body. Their spine may be curved and their breastbone (sternum) may either stick
out or be indented. Their joints may be weak and easily become dislocated.
Often, people with Marfan syndrome have a long, narrow face and the roof of the
mouth may be higher than normal, causing the teeth to be crowded.
Eye complications
People with Marfan syndrome are often very tall and thin. Their arms, legs,
fingers and toes may seem out of proportion, too long for the rest of their
body. Their spine may be curved and their breastbone (sternum) may either stick
out or be indented. Their joints may be weak and easily become dislocated.
Often, people with Marfan syndrome have a long, narrow face and the roof of the
mouth may be higher than normal, causing the teeth to be crowded.
Eye complications
- Lens dislocation. The focusing lens within your eye can move out of place if its supporting structures weaken. The medical term for this problem is ectopia lentis and it occurs in more than half the people who have Marfan syndrome.
- Retinal problems. Marfan syndrome also increases the risk of a detachment or tear in the retina, the light-sensitive tissue that lines the back wall of your eye.
- Early-onset glaucoma or cataracts. People who have Marfan syndrome tend to develop these eye problems at a younger age. Glaucoma causes the pressure within the eye to increase, which can damage the optic nerve. Cataracts are cloudy areas in the eye's normally clear lens.
Heart valve problems: The heart’s valves, especially the mitral
valve, can be affected by Marfan syndrome. The valve leaflets become floppy and do not close tightly, allowing blood to leak backwards across the valve. When MVP progresses, the condition is called mitral valve regurgitation.
Cardiomyopathy: With Marfan syndrome, the heart muscle may
enlarge and weaken over time, causing cardiomyopathy. The condition may progress to heart failure.
Aortic root dilation: The aortic root is the area where the aorta meets the aortic valve. With Marfan syndrome, the aortic root may dilate or widen. This can cause the aortic valve to become stretched and leak.
Arrhythmia (abnormal heart rhythm): May occur in some patients with Marfan syndrome. Arrhythmia is often related to MVP.
(Healthgrades, 2013)
valve, can be affected by Marfan syndrome. The valve leaflets become floppy and do not close tightly, allowing blood to leak backwards across the valve. When MVP progresses, the condition is called mitral valve regurgitation.
Cardiomyopathy: With Marfan syndrome, the heart muscle may
enlarge and weaken over time, causing cardiomyopathy. The condition may progress to heart failure.
Aortic root dilation: The aortic root is the area where the aorta meets the aortic valve. With Marfan syndrome, the aortic root may dilate or widen. This can cause the aortic valve to become stretched and leak.
Arrhythmia (abnormal heart rhythm): May occur in some patients with Marfan syndrome. Arrhythmia is often related to MVP.
(Healthgrades, 2013)