lol jk, there's way more to it than that picture can explain. This is what Grok has to say about it when I tell it to be concise:
Marfan Syndrome is a genetic disorder affecting connective tissue, caused by mutations in the FBN1 gene, which encodes fibrillin-1. It impacts multiple systems, primarily the skeletal, cardiovascular, and ocular systems.
Based on Ghent criteria: Family history, genetic testing (FBN1 mutation), and clinical findings (e.g., aortic root dilation, ectopia lentis). Imaging (echocardiogram, MRI) and eye exams aid diagnosis.
Treatment:
No cure: Management focuses on symptoms. Cardiovascular: Beta-blockers, surgery for aortic aneurysms. Skeletal/Ocular: Braces, corrective lenses, or surgery. Lifestyle: Avoid high-impact sports to reduce aortic stress.
Prognosis:
With early diagnosis and management, life expectancy nears normal. Untreated aortic complications can be fatal.
Note:
Affects ~1 in 5,000 people. Genetic counseling is recommended. If you need specific details or suspect Marfan syndrome, consult a doctor or geneticist. Let me know for more!
Nosferatjew 1 points 4 hours ago
Look at the picture.
lol jk, there's way more to it than that picture can explain. This is what Grok has to say about it when I tell it to be concise:
Marfan Syndrome is a genetic disorder affecting connective tissue, caused by mutations in the FBN1 gene, which encodes fibrillin-1. It impacts multiple systems, primarily the skeletal, cardiovascular, and ocular systems.
Key Features:
Skeletal: Tall, slender build; long limbs, fingers, and toes (arachnodactyly); scoliosis; chest deformities (pectus excavatum/carinatum); joint hypermobility.
Cardiovascular: Aortic aneurysm or dissection (life-threatening); mitral valve prolapse.
Ocular: Lens dislocation (ectopia lentis); nearsightedness (myopia).
Other: Stretch marks, lung issues (e.g., pneumothorax), dural ectasia.
Diagnosis:
Based on Ghent criteria: Family history, genetic testing (FBN1 mutation), and clinical findings (e.g., aortic root dilation, ectopia lentis).
Imaging (echocardiogram, MRI) and eye exams aid diagnosis.
Treatment:
No cure: Management focuses on symptoms.
Cardiovascular: Beta-blockers, surgery for aortic aneurysms.
Skeletal/Ocular: Braces, corrective lenses, or surgery.
Lifestyle: Avoid high-impact sports to reduce aortic stress.
Prognosis:
With early diagnosis and management, life expectancy nears normal. Untreated aortic complications can be fatal.
Note:
Affects ~1 in 5,000 people. Genetic counseling is recommended. If you need specific details or suspect Marfan syndrome, consult a doctor or geneticist. Let me know for more!