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Symptoms of Marfan Syndrome

The symptoms of this disorder are numerous, even though many individuals who are afflicted with Marfan syndrome are never identified.  There are six basic areas impacted by this genetic disorder.  They include the skeleton, eyes, heart and blood vessels, nervous system, skin, and lungs.

Symptoms of Marfan SyndromeThe most obvious symptom of Marfan syndrome is the excessive length of their skeleton.  Generally, individuals with this disorder are above the ninety-seventh percentile in height .  When the thumb of a person with Marfan syndrome is laid in his or her palm, it generally extends past the hand.  In addition to their arms, legs, and phalanxes being extremely long, they also typically have a long face .  Their built is slender or narrow.  Their teeth may even appear crowded because of deformities in the roof of their mouth.  Scoliosis, flat feet, and a sunken in chest cavity are other symptoms.  In fact, many individuals will have claw toes or hammer toes that may make walking painful

The development of cataracts and glaucoma are some of the disorders associated with the eyes of an individual with Marfan syndrome . Often, the individual with Marfan syndrome will have the condition associated with near-sightedness or myopia.  Additionally, the lens of the eyes may be in abnormal positions.  This is present in approximately half to three-fourths of those individuals with Marfan syndrome.

The most common difficulties will be associated with the cardiovascular system.  These problems can occur in a number of ways.  For example, “the valve between the left chambers of the heart is defective and may be large and floppy, resulting in an abnormal valve motion when the heart beats.”  There may also be heart murmurs due to the leaking of a valve.  Additionally, irregularities in beating of the heart may result.  The aorta is generally weak because of the defective connective tissue.  If the aorta ruptures, it may cause a sudden fatality.  “Other common cardiovascular complications include mural valve prolapse, peropheral artery aneurysm, arrhythmias, and bacterial endocarditis”.

In addition to those areas mentioned above, the nervous system is also impacted negatively in the individual with Marfan syndrome.  The most common problem is dural ectasia.  This is caused by a weakening of the dural membrane that contains the spinal fluid, resulting in bone mass decreasing.

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