Marfan syndrome is an inherited disorder that affects the connective tissues in the body. This HealthHearty article will give you a brief information on this disorder and help you identify its symptoms.
Marfan syndrome is a connective tissue disorder that affects the fibers that form the framework and support the body. It can affect many different parts of the body like the heart, blood vessels, eyes, skeleton, etc. The level of damage to the organs depends upon the severity of the condition. In many severe cases, the disease may become life-threatening.
It is said that Marfan syndrome occurs in one person per 5,000 people. People suffering from this disorder have a tall and thin body frame. They have disproportionately long arms, legs, fingers, and toes. Additional symptoms of this condition are explained in the following paragraph.
Symptoms
This condition can affect many parts of the body. The symptoms may appear to be mild in some cases and severe in others. At least one in ten people with this syndrome, suffers from severe symptoms. These are discussed as under.
Heart Problems
The heart and blood vessels may get affected through the aortic aneurysm. The walls of the aorta become weak, and in some cases the aorta may enlarge and bulge out. It may also tear and rupture in severe cases. This leads to internal bleeding and even death.
Eye Problems
This condition may cause eye problems such as, myopia (short-sightedness), lens dislocation, glaucoma, cataracts, detachment of the retina, etc.
Dural Ectasia
The membrane covering the brain and spinal cord is called the dura. In case of dura ectasia, the membrane becomes weak and expands outwards. The risk of developing dura ectasia is really high in people with Marfan syndrome. The expanding membrane presses the vertebrae in the lower back. This results in back pain, headache, and numbness in legs.
Spondylolisthesis
This condition is characterized by one vertebra slipping forward over another vertebra. This condition usually occurs in the lower back, and causes pain and stiffness in the area. Spondylolisthesis is a common problem, although, people with Marfan syndrome are more prone to develop it.
Scoliosis
This condition causes a curved spine, which leads to chronic backache and difficulty in breathing. The spine presses against the heart and lungs leading to shortness of breath.
Skeletal Problems
Those with Marfan syndrome are normally tall, slim, with thin, long arms and legs. They also have loose and flexible joints. Do not worry if you feel your child is taller than his peers. This condition is very rare and you need to look out for other symptoms before coming to a conclusion, some are mentioned as follows.
- Lower jaw is smaller than normal
- The palate is high and arched
- Deep set eyes
- Flat feet
- The breast bone either protrudes outward, or caves in
- Crowded teeth
Causes
Marfan syndrome is usually an inherited condition from a parent with an abnormal gene. It is an autosomal dominant condition. This means only one defective gene from a parent can lead to the disease. Therefore, a child of a parent with the defective gene has 50-50 chances of developing the condition.
Disclaimer: This HealthHearty article is for informative purposes only, and should not be used as a replacement for expert medical advice.
