- Autosomal dominant connective tissue disorder
- Mutation in gene coding for Fibrillin, which contributes to the extracellular matrix
- Hyper-flexibility
- Aortic aneurysm (thoracic and abdominal) or dissection, which might be asx/not known until rupture
- Aortic valve insufficiency
- SOB or CP related to aortic valve/aorta pathology
- Osteoporosis w/insufficiency fractures
- Ectopic lens w/visual changes
- Osteoporosis w/increased insufficiency fractures
- High arched palate
- Pectus excavatum or carinatum
- Thumb extends beyond palm when fingers closed over it
- Visual decline related to lens dislocation
- Kyphosis and scoliosis
- 'Stretch marks' on skin @ sites of stress
- Aorta (thoracic and abdominal) and aortic valve abnormalities: echo, CT
- Genetic testing to identify known mutations