In the list of genetic disorders, Marfan syndrome has a newly added name. This is a genetic disorder of connective tissues which develops due to mutation of FBN1 gene. Connective tissue as the name indicates is very important in body’s structural framework. This syndrome is known to affect eyes, heart, blood vessels and skeleton. However damage caused by the syndrome could be mild or severe. And if this is affecting your heart of blood vessels the most then your life could be in danger.
What causes Marfan syndrome?
A gene in our body produces protein that gives elasticity and strength to the connective tissues. Defect in this gene results in the Marfan syndrome. This is passed from parents to their offspring and the affects kid has 50-50 chances of transmitting the same to the next generation. Though this syndrome passes from parents to their kids but in about 25 percent people, this gene doesn’t pass by either of parents. New mutation is developed continuously in the sufferer’s body.
What are the symptoms of Marfan syndrome?
Symptoms experienced by the sufferer vary even if it is present in two member of same family. Some may go through mild symptoms while some get severe effects which may life threatening too. In most of the cases it has been seen that this syndrome gets worse with the increasing age.
Marfan syndrome symptoms are as follows:
- Tall physical structure
- Long limbs, fingers and toes which are not in proportion
- Inward or outward breastbone
- Crowded teeth and arched palate
- Heart murmurs
- Flat feet
- Abnormal curved spine
- Severe nearsightedness
What are the treatment options for Marfan syndrome?
This syndrome is curable and historical records have confirmed that people suffering from this syndrome rarely live past 40. However regular monitoring of the disorder and with the help of advance technology it is possible to0 increase life span of the sufferer. Treatment includes medications used to treat blood pressure and surgeries to fix damage caused by Marfan syndrome.