Marfan's Syndrome ICD-9
Marfan's Syndrome Etiology / Epidemiology / Natural History
- Autosommal Dominant, 25% result from sporadic de novo gene mutation.
- defect in fibrillin
Marfan's Syndrome Anatomy
- Marfan syndrome is caused by mutations the FBN1 gene.
Marfan's Syndrome Clinical Evaluation
- Arachnodactyly (long slender fingers, claw or hammer toes)
- pectus deformities (pectus carinatum / excavatum
- cardiac valves
- ocular(superior lens dislocation 60%)
- Joint laxity
- Reduced upper to lower segment ratio (long legs)
- Arm span greater then height
- Reduced extension at elbows
- Pes Planus
- Dural ectasia
- Highly arched palate with crowding of the teeth
- Facial appearance (dolichocephaly, malar hypoplasia, enopthalmos, retrognathia, down-slanting palpebral fissures
Marfan's Syndrome Xray / Diagnositc Tests
Marfan's Syndrome Classification / Treatment
- Anyone suspected of having undiagnosis Marfan's syndrome should be referred for appropriate diagnosis and management. Beta-blockers, activity restrictions etc. Best managed by multidisiplinary team.
- Scoliosis bracing is ineffective
- Scoliosis with kyposis=ant/post fusion
- Increased risk of sudden cardiac death during sport from aortic dissection.
- Orthopaedic Management
- Cardiac Management
- Ocular Management
Marfan's Syndrome Associated Injuries / Differential Diagnosis
- Beals syndrome (Congenital contractural arachnodactyly)
- Weill-Marchesani syndrome
Marfan's Syndrome Complications
- Sudden dardiac death (aortic root dissection
Marfan's Syndrome Follow-up Care
- Generally should be referred to mutlidisciplinary team for management.
Marfan's Syndrome Review References