Marfan's Syndrome (>-<)

Diseases

Marfan's Syndrome http://www.marfan.org/about/marfan

Marfan's syndrome is a disorder of connective tissue, the tissue that strengthens the body's structures. Disorders of connective tissue affect the skeletal system, cardiovascular system, eyes, and skin. Marfan's syndrome is usually caused by a change or mutation in the genetic material in the fibrillin 1 gene on chromosome 15. This gene is responsible for making a special protein called fibrillin. Fibrillin is an important part of connective tissue in the body. Marfan's syndrome is autosomal dominate meaning the gene in question is located in one of the autosomes (a numbered pair of chromosomes 1 through 22 in this case chromosome 15).Dominate means that only one gene from a parent is required to pass down the trait of disorder.

Symptoms, Diagnosis and Frequency of Marfan's Syndrome

Symptoms http://ghr.nlm.nih.gov/condition/marfan-syndrome

People with this syndrome are tall, slender and have longer fingers and toes. Their arm span exceeds their body height. They have a long and narrow face, crowded teeth, and an odd curvature of the spine (ex. scoliosis). Some individuals develop an irregular accumulation of air in the chest cavity that can result in the collapse of a lung. They either a sunken chest or a protruding chest.

Diagnosis http://www.mayoclinic.org/diseases-conditions/marfan-syndrome/basics/tests-diagnosis/con-20025944

  • Marfan syndrome can be challenging for doctors to diagnose because many connective tissue disorders have comparable signs and symptoms.
  • Echocardiogram- this test uses sound waves to capture real-time images of your heart in motion. It checks the condition of your heart valves and the size of your aorta.
  • Slit-lamp exam- This test checks for lens dislocation, cataracts or a detached retina.
  • Eye pressure test- To check for glaucoma, your eye doctor may measure the pressure inside your eyeball by touching it with a special tool.
  • If findings from standard exams for Marfan syndrome aren't clear, genetic testing can be useful. You can also see what your chances are of passing on Marfan syndrome to your future children.

Frequency http://ghr.nlm.nih.gov/condition/marfan-syndrome

Marfan's syndrom is one of the most common diseases in the world. It has approximately 1 in 5,000 worldwide

Life Expectancy and Treatments http://www.mayoclinic.org/diseases-conditions/marfan-syndrome/basics/treatment/con-20025944

  • life expectancy: usually normal life span
  • treatments: medication to lower blood pressure because of their weak blood vessels
  • treatments: therapy
  • treatments: surgery

6 Interesting Facts About Marfan's Syndrome https://sites.google.com/site/marfansyndrome302/home/10-interesting-facts

  • Abe Lincoln was discovered to have Marfan's syndrome and current professional swimmer Michael Phelps has it as well.
  • People usually inherit this disease from only 1 of their parents who have shown symptoms of it.
  • It was first noted and discovered in 1896 by a man known as Antoine Marfan.
  • Pulling a tooth can actually kill someone who has Marfan's because they can get infected much quicker that someone without marfans
  • February is Marfan syndrome's awareness month
  • The main danger that people with marfan's syndrome have to worry about is heart problems.