Telltale Symptoms That Define Marfan Syndrome

child posture examination

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  • People diagnosed with Marfan syndrome can be affected in any part of their body. In general, the disease affects the connective tissues in the heart, eyes, bones, lungs and the membrane covering the spinal cord
  • Marfan syndrome can cause various problems with your vision. One common example is a dislocated lens in one or both eyes because the ligaments have failed. As a result, you may develop blurry vision depending on the severity of the damage
  • According to the American Academy of Orthopaedic Surgeons, approximately 60 percent of children affected with Marfan syndrome develop scoliosis, a condition characterized by a curved spine

People diagnosed with Marfan syndrome can be affected in any part of their body. It is hard to pin down the exact symptoms, but there are certain commonalities that appear in those who have it. In general, the disease affects the connective tissues in the heart, eyes, bones, lungs and the membrane covering the spinal cord.1 In light of this, symptoms and physical traits can vary wildly, such as:2,3

Having a tall, slender build

Long arms, legs and fingers that are disproportionate to the rest of the body

A high, arched palate

A curved spine, also known as scoliosis

Extreme nearsightedness

Flat feet

Heart murmurs, or unusual sounds heard between heartbeats4

Crowded teeth

Stretch marks on the lower back, buttocks, shoulders, breasts, thighs and abdomen

Marfan Syndrome Can Lead to Other Complications

Due to the way Marfan syndrome affects your connective tissues, you may develop complications that arise directly due to the disease. As a result, you may experience other symptoms in the following areas:5

Eye problems: Marfan syndrome can cause various problems to your vision. One common example is a dislocated lens in one or both eyes because the ligaments have failed. As a result, you may develop blurry vision depending on the severity of the damage.6 In other cases, the disease may lead to nearsightedness and cataracts.

Early glaucoma is another ailment associated with Marfan syndrome. At first, you may have trouble adjusting to dark rooms, difficulty focusing on near or distant objects, and squinting due to glare or double vision. Other noticeable indicators include a change in the color of your iris and encrusted or swollen lids.7

Nervous system issues: Problems related to the fluids enveloping your spinal cord may appear due to Marfan syndrome, particularly dural ectasia. In this condition, the dural sac, which is the membrane that covers the spinal cord within the vertebral column,8 stretches and becomes weak. This can lead to a variety of symptoms, such as lower back pain, headache, proximal leg aching, weakness and numbness above the knee, and genital or rectal discomfort.9

Spinal complications: According to the American Academy of Orthopaedic Surgeons, approximately 60 percent of children affected with Marfan syndrome develop scoliosis, a condition characterized by a curved spine.10 Scoliosis tends to disappear as children grow up, but some are not as fortunate. Certain complications that may appear as a result of scoliosis include chronic pain, respiratory deficiencies and decreased exercise capacity.11

Symptoms to watch out for include uneven leg lengths, a slightly off-center head, one prominent hip side and having one shoulder that's higher than the other. An X-ray scan can help determine if a person truly has scoliosis.12

Heart ailments: Marfan syndrome may cause a variety of complications to your cardiovascular system, with most of them being serious. In particular, it may cause aortic aneurysm, a condition wherein your aorta stretches and grows weak, possibly leading to a tear (aortic dissection).

Symptoms include a throbbing feeling in your abdomen and a deep pain in your back. Even worse, a sudden rupture may cause internal bleeding and send you into shock, wherein your blood pressure drops so low that vital organs can't function normally.13

Visit a Doctor Immediately if You Develop Symptoms of Marfan Syndrome

If you suspect that you have the telltale traits and symptoms of Marfan syndrome mentioned above, visit your doctor right away for a proper diagnosis. They may be able to determine the source of your condition and confirm whether it is Marfan syndrome or not. In any case, getting help is strongly recommended to safeguard your health in the long run.

MORE ABOUT MARFAN SYNDROME

Marfan Syndrome: Introduction

What Is Marfan Syndrome?

Marfan Syndrome Symptoms

Marfan Syndrome Causes

Marfan Syndrome Treatment

Marfan Syndrome Prevention

Marfan Syndrome Diet

Marfan Syndrome FAQ


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