A genetic disorder of connective tissue, involving defects of heart valves and aorta. The disease also affects the eyes, lungs, dural sac surrounding the spinal cord, skeleton and hard palate.
Cause(s) :
Genetic mutations
Symptoms : Skeletal system symptoms:
Above average height
Long limbs, fingers and toes
Weak and slender limbs and fingers and toes
Abnormal curvature of spine
Abnormal shape of the sternum (bones of the ribcage), stooped shoulders
Abnormal flexibility of joints
High hard palate (roof of mouth)
Malocclusions of feet, hammer toes
Early osteoarthritis
Symptoms affecting Eyes:
Shifting of lens from normal position
Weakness of ciliary zonules (the connective tissue strands that suspend the lens within the eye)
Nearsightedness and blurred vision
Risk of retinal detachment and early onset of cataract
Cardiovascular sysmptoms:
Fatigue, shortness of breath
Heart palpiations
Chest pain radiating to back, shoulder or arm
Prolapse of mitral or aortic valves
Dilated aorta or aortic aneurysm, aortic dissection (tear in the inner wall of aorta)
Symptoms of lungs:
Fluid accumulation in lungs
Cyanosis
Pathological changes in lungs such as emphysema, bullae, apical fibrosis
Middle lobe hypoplasia
Symptoms of central nervous system:
Widening of the dural sac that surrounds the spinal cord
Lower back pain, leg pain, abdominal pain
Degenerative disc disease, spinal cysts
Diagnosis and Tests :
Family history
Clinical examination of four skeletal signs with one or more signs in eye or heart.
Ghent Nosology is a checklist and diagnostic tool for diagnosis of Marfan syndrome
Comments should be on the topic and should not be abusive. The editorial team reserves the right to review and moderate the comments posted on the site.
Careers
