Mutations in the fbn1 gene are associated with several connective tissue disorders, the most notable being Marfan Syndrome. This syndrome is characterized by features such as:
Aortic Aneurysm: Weakening of the aortic wall, leading to dilation and risk of rupture. Skeletal Abnormalities: Overgrowth of long bones, scoliosis, and chest deformities. Ocular Issues: Lens dislocation and myopia. Skin Manifestations: Stretch marks and hernias due to reduced skin elasticity.
