Marfan Syndrome
WHAT IS MARFAN SYNDROME? Marfan syndrome can be described as a heritable genetic disorder that affects the connective tissue, leading to long and slim hands, arms, legs, fingers, toes, etc. It is characterized by disproportionately tall arms, legs, fingers, and toes as it affects the joints in that region leading to overly flexible joints. Sometimes […] Read More
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Marfan Syndrome
- Cardiovascular complications such as complications with the heart and its blood vessels as the abnormal connective tissue could result in a weakened aorta which is a major artery of the heart that supplies blood to the body arising from the heart. These complications could be aortic aneurysms, aortic dissection, valve malformation, etc.
- Complications in the eyes such as lens dislocation due to weakening connective tissue, retinal problems as the retina may detach or tear easily, the development of glaucoma, etc.
- Complications in the skeletal system resulting in an abnormal spine such as scoliosis, abnormal development of the ribs which causes the breast bone to appear sunken or protruding into the chest, etc.
- Complications also during pregnancy due to the increase in blood pressure resulting in aorta dissection.
Symptoms
MARFAN SYNDROME SYMPTOMS
The signs and symptoms of Marfan syndrome vary amongst people, even amongst family members with the same syndrome, as some symptoms could be mild while others could be quite chronic.
The symptoms and signs could include:
- Breast bone that protrudes outwards or dips inward.
- High arched palate and crowded teeth.
- Heart murmurs.
- Extreme nearsightedness
- Flat feet.
- Abnormally curved spine.
- Tall and slender build.
Causes
WHAT CAUSES MARFAN SYNDROME
Marfan syndrome is caused by a mutation of a gene called the FBN1 on chromosome 15 which is responsible for producing fibrillin – a protein that enables the body to produce connective tissue.
The alteration of this margin syndrome gene leads to the production of abnormal connective tissue that is abnormally elastic. The mutation of the gene could be due to a transfer from the parent or a new mutation.
There is a 50 percent chance that the child of an infected person will also become infected although sometimes a spontaneous Marfan syndrome genetics defect in the sperm or egg could occur during pregnancy.
FAQ
How can I reduce the risk of my unborn baby having Marfan syndrome?
You will be asked to go for counseling and you will need to seek medical advice from your doctor as Marfan syndrome is hereditary and the probability of the baby having the gene is high.
What is the life expectancy of someone with Marfan syndrome?
Despite the complications associated with Marfan syndrome, with proper treatment, and the advance in medical technology, someone with Marfan syndrome, can live up to 70 years
At what age is Marfan syndrome usually diagnose?
Recent studies have shown that the median age at diagnosing this syndrome is mostly during puberty and adolescence period.
Does Marfan syndrome affect intelligence?
Marfan syndrome affects mainly the heart, skeletal system especially the bone, the lungs, etc .there is no evidence that Marfan syndrome affects the brain.
Does Marfan syndrome get worse with age?
Marfan syndrome can be mild or chronic and get worse with age depending on the areas affected and to what degree.