Identify the symptoms of Marfan syndrome: An inherited disorder

Marfan’s syndrome is a type of an inherited connective tissue disorder that has adverse impact on normal body growth including organs, skeletal system, skin, eyes, and heart. A group of tissues maintain the structure of the body and support internal organs and other tissues.

Patients who suffer from this disease are usually tall and thin. They have disproportionate long arms, legs, fingers and toes. As Marfan’s syndrome is a genetic or inherited disorder, the genetic defect happens in a protein called fibrillin-1, which has vital role in the formation of connective tissue in person. The defect also leads to overgrowth in bones. Marfan’s syndrome is generally visualized as a rare genetic disorder by clinicians but it is suspected that cases are found in different parts of globe. 

People who grip in Marfan’s syndrome exhibit symptoms in infancy and early childhood, or later in life. The visible symptoms occur in bones and joints. These may include:

-       Unusually tall height

-       Long limbs

-       Large, flat feet

-       Loose joints

-       Long, thin fingers

-       A curved spine

-       A chest bone (sternum) that sticks out or caves inward

-       Crowded teeth (caused by an arch in the roof of the mouth)

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The more imperceptible symptoms happen in heart and blood of person. People with Marfan’s syndrome often have eye problems. Eyes complication may be lens dislocation, retinal problem, and early onset of glaucoma.

Diagnostic process is done by doctor through reviewing family history of patient and conducting a physical exam. These exams include the following:

-       An echocardiogram, which is used to investigate aorta for enlargement, tears, or aneurysms (bubble-like swelling due to weakness in the walls of the artery).

-       An electrocardiogram (EKG), which is used to check patient’s heart rate and rhythm.

-       A magnetic resonance imaging (MRI) test, which is done in some people to look for lower back problems.

-       Eye test is also performed to determine overall health of the patient.

Presently no treatment options are available in medical science. But doctors aid in lessening the impact of symptoms of this inherited disease. Some medications are prescribed by medical practitioners to lower the blood pressure in order to reduce the strain on aorta of patient.

Patients with Marfan’s syndrome can manage their health conditions through regular visit to doctor.

To wrap up strands of this disorder, it is established that Marfan syndrome, a comparatively common autosomal hereditary disease of connective tissue with noticeable appearances in the skeletal, ocular, and cardiovascular systems. In medical area, there is no cure of this disorder but it can be managed through medication to lessen the symptoms.

Important: This article is developed through environmental information and personal view of writer. Writer is not responsible for any disagreement.