Marfan syndrome

connective-tissue disorder: autosomal dominant, 15% sporadic

cardiovascular system (prob. cause of death in 93%)
- aortic aneurysm (mostly ascending)
- dilatation of aortic sinuses
- aortic dissection
- coarctation
musculoskeletal system
- tall stature, long limbs
- arachnodactyly
- lax joints
spine
- scoliosis (60%) / kyphosis / pectus
- dural ectasia
eye
- lens subluxation

More info: Marfan syndrome [OMIM]

Charles E. Kahn, Jr., MD - 24 November 1995
Last updated: 1 October 2013