Marfan Syndrome
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What is Marfan Syndrome?
Marfan Syndrome is a disorder that affects the bodies connective tissues. Causing long arms and legs,Curvature of the spine,Sudden lung collapse, And a multitude of other problems.
How is Marfan syndrome caused?
Marfan syndrome is caused by the protein fibrillin-1. The disorder is caused when there is a mutation in the gene that tells the body how to make fibrillin-1.This mutation results in an increase in a protein called transforming growth factor beta.
Symptoms
- Tall and Slender body
- A breast bone that protrudes outwards or dips inwards
- Flat feet
- A high, arched palate and crowded teeth
- Heart murmurs
- Extreme nearsightedness
- An abnormally curved spine
- Flexible joints
- Dislocated lens of the eye
- Early cataracts
- Sudden lung collapse
- Sleep apnea
- Asthma
- Emphysema
- scoliosis or kyphosis
- Long, thin fingers
Refrensese
Cañadas V, Vilacosta I, Bruna I, Fuster V. Marfan syndrome. Part 1: pathophysiology and diagnosis. Nat Rev Cardiol. 2010 May;7(5):256-65. doi: 10.1038/nrcardio.2010.30. Epub 2010 Mar 30. Review. PubMed citation
http://www2.bioch.ox.ac.uk/handfordlab/fibrillin.htm
http://www.hughston.com/hha/b_12_2_4a.jpg