Etiology:

Fibrillin gene (FBN1) mutation on chromosome 5 – low strength collagen

Clinical:

1. Musculoskeletal:

• Long extremities in relation to trunk
• Pectus carinatum or pectus excavatum
• Scoliosis

2. Orofacial:

• Long narrow face
• High arched palate
• Dental crowding

3. Cardiovascular:

• Mitral valve prolapse + medial necrosis of aorta – mitral and aortic regurgitation – aneurysm and heart failure

4. Optical:

• Ectopia lentis
• Myopia
• Retinal detachment

Management:

• Always use prophylaxis for infectious endocarditis
• Annual ECG, ophthalmic review and scoliosis screening