What are the Symptoms and Signs of Marfan Syndrome?
Marfan syndrome causes symptoms related to brain, eyes, heart, bones, skin, blood vessels and lungs.
The defective genes that contribute to Marfan syndrome cause overgrowth of the long bones of the body; hence the patients affected by Marfan syndrome are tall and slender. Clinical features of a person affected with Marfan syndrome include:
- Skeletal Abnormalities: Besides an increase in height, the patient also shows other skeletal abnormalities. These include abnormal curvature of the spine, and elongation of fingers and toes. The limbs are disproportionately long as compared to the trunk. Marfan syndrome causes deformity of the chest wall due to overgrowth of ribs leading to condition called funnel chest (chest sinks in) or pigeon breast (chest sticks out). Joints are lax and tend to dislocate easily.
- Visual Problems: Visual problems like short sightedness, and dislocation of the lens of the eyes are the most common symptoms seen in patients affected with Marfan syndrome. Other visual problems include early cataract formation, increased pressure within the eyes and detachment of the retina (the innermost light-sensitive layer of the eye).
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- Abnormalities Related to the Heart and Blood Vessels: Weakness of the aorta, which is the most important and major blood vessel of the body, can result in rupture and often instant death. Prolapse of heart valves are also noted in cases of Marfan syndrome. Heart diseases contribute to majority of deaths due to Marfan syndrome.
- Dural Membrane Weakness: Weakness of the dural membrane, which is composed of connective tissue and surrounds the spinal cord and brain, is seen which results in headache, lower back pain and other brain-related problems.
- Skin and Related Problems: Skin-related symptoms include development of stretch marks without any weight change. The patient is also prone to recurrent hernias.
- Lung Problems: Patients with Marfan syndrome may experience abnormal collection of air within the lungs, a condition referred to as spontaneous pneumothorax. This could lead to collapse of lungs.
