Overview
Marfan syndrome is an autosomal dominant genetic disorder affecting the connective tissue of the body. This affects skeletal and cardiovascular system as well as the eyes and skin.
Causes
Marfan syndrome is a result of mutation of the gene Fibrillin-1. This gene is a key factor in building elastic tissue in the body. The mutation particularly affects the aorta, eyes and skin.
Do I have Marfan Syndrome?
Well.....You might. Marfan syndrome is inherited, but 30 percent of all cases appear sporadic. These sporadic cases are caused by genetic mutation of Fibrillin-1.
Those afflicted tend to be taller and thinner in all regard to their body, a condition known as arachnodactyly
Other Symptoms of marfan syndrome include
- Coloboma of the iris
- Flat Feet
- Portuding or funnel chest
- Underdeveloped muscles
- Learning disabilty
- Scoliosis
- Small jaw
- Thin narrow face
- Ocular dislocations
- Increased joint dislocations [1]
Tests
If marfan syndrome is suspected a doctor might perform a cardiological exam such as an echocardiogramand test for hyperlaxity of joints.
An optometrist will test the vision as well as searching for retinal or corenal defects and retinal detachment.
In mutant cases it is possible to test for the defective fibrillin-1 gene.
Marfan Syndrome is somewhat common, occuring 1 in 5000 births. This is because it is a dominant disorder. One allele will show the Marfan phenotype.
Treatments and overview
Marfan syndrome cannot be cured, but precautions can be taken. The afflicted should avoid athletic participation and give the body extra time to heal following medical procedures. They should also have at least an annual check up. A reletivly normal life can be lead.
The lifespan may be potentially shortend by cardiovascular problems.
Other complications include
- Aortic regurgitation
- Aortic rupture
- Bacterial endocarditis
- Dissecting aortic aneurysm
- Enlargement of the base of the aorta
- Heart failure
- Mitral valve prolapse
- Scoliosis
- Vision problems
Various support groups also exist to aid those in need. Some are:
[3]
Footnotes
- "Marfan syndrome: MedlinePlus Medical Encyclopedia." National Library of Medicine - National Institutes of Health. N.p., n.d. Web. 2 Nov. 2009. . ▲
- "Marfan Syndrome." National Encyclopedia of Health. National Institute of Health, n.d. Web. 1 Nov. 2009. . ▲
- "Marfan Syndrome." National Encyclopedia. National Institute of Health, n.d. Web. 1 Nov. 2009. . ▲