3 Questions
Which gene is responsible for causing Marfan Syndrome?
FBN1
Which systems are primarily affected by Marfan Syndrome?
Cardiovascular, skeletal, and ocular systems
What is the impact of Marfan Syndrome on the skeletal system?
Bone deformities
Study Notes
Marfan Syndrome
- Caused by mutations in the FBN1 gene, which codes for fibrillin-1, a protein essential for connective tissue structure and function.
Affected Systems
- Cardiovascular system: affects the aorta, heart valves, and blood vessels, leading to aortic aneurysms, aortic dissection, and mitral valve prolapse.
- Skeletal system: characterized by tall stature, long limbs, and arachnodactyly (spider-like fingers).
- Ocular system: affects the eyes, leading to lens dislocation, retinal detachment, and other vision problems.
- Nervous system: can cause dural ectasia, a condition that leads to herniation of the dura mater, a protective membrane surrounding the spinal cord and brain.
Skeletal System Impact
- Leads to tall stature, typically above 6 feet 5 inches, and long limbs, arms, and fingers.
- Causes arachnodactyly, also known as "spider fingers," due to the long and slender fingers.
- May result in scoliosis, kyphosis, and other spinal abnormalities.
Test your knowledge about Marfan Syndrome and its impact on the cardiovascular, skeletal, and ocular systems. Learn about the mutation in the fibrillin gene (FBN1) and its role in causing this genetic disorder.
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