Overview
Marfan syndrome occurs due to one of many mutations in the gene encoding the extracellular matrix protein fibrillin 1.
Manifestations
Clinical Features
Musculoskeletal
- Wrist sign: when the patient wraps their thumb and fifth finger around their opposite wrist, the thumb and fifth finger overlap
- Thumb sign: when the patient adducts their thumb, it extends beyond the ulnar border of the palm
- Pectus carinatum: forward angulation of the sternum
- Hindfoot deformities - particularly hindfoot valgus
- Pes planus: flat foot
- Scoliosis / lumbar kyphosis
- Reduced upper segment / lower segment ratio (with the pubic symphysis separating the upper and lower segments)
- Increased arm span / height ratio (i.e. arms longer than the patient's height)
Facial
- Dolichocephaly: abnormally long head (anterior-posterior)
- Enophthalmos: posterior displaceemnt of the eye within the orbit
- Downslanting palpebral fissures (the line between the medial canthus and the lateral canthus of the eye)
- Malar hypoplasia: underdeveloped cheek bones
- Retrognathia: posterior displacement of the mandible
Other
- Reduced elbow extension
- Skin striae
Complications of Marfan Syndrome
Cardiovascular
- Dilatation of the proximal aorta
- Aortic root dissection
- Mitral valve prolapse
Ocular
- Ectopia lentis: lens displacement (pathognomonic)
- Myopia: nearsightedness
Musculoskeletal
- Protrusio acetabuli: displacement of the medial aspect of the femoral head beyond the ilio-ischial line
Other
- Pneumothorax
- Dural ectasia: ballooning of the dura in the spine resulting in enlargement of the neural canal
Next Page
----------------------------------------------------------------------------------------------------------------------------------------------------------------------------