1. It is an autosomal dominant syndrome.
2. Caused by a mutation in the FBN1 gene, which affects the production of extracellular glycoprotein fibrillin-1.
Pathophysiology-
1. Disrupted Microfibrils
2. Excessive TGF-β signaling
Signs and symptoms- Ocular, cardiovascular, skeletal features
Ocular features:
1 Bilateral ectopia lentis (dislocation of eye lens)- Superior temporally
Cardiovascular features:
1 Dilated ascending aorta
2 Mitral valve prolapse
3 Aortic dissection
Skeletal features:
1 Tall stature
2 Arachnodactyly / Spider fingers (abnormally long and slender fingers)
3 Scoliosis, kymphosis
Reference:
1. Robbins & Cotran pathologic basis of disease (South asia edition), Vol. 1, P. No. 144-45
2. Harper's illustrated biochemistry, 30th edition (International), P. No. 632-33