Marfan syndrome is a genetic disorder that affects connective tissue, leading to a variety of symptoms. Diagnosis typically involves a combination of:
- Family history: Assessing the occurrence of Marfan syndrome in relatives.
- Physical examination: Evaluating features such as tall stature, long limbs, and heart abnormalities.
- Genetic testing: Identifying mutations in the FBN1 gene, which is associated with Marfan syndrome.
- Medical tests: Echocardiograms, eye exams, and X-rays to assess the impact of Marfan syndrome on the heart, eyes, and bones.
