Marfan’s syndrome is a dominant inherited disorder of collagen synthesis. This will leads to abnormal fragile connective tissue.
Clinical manifestations of Marfan’s syndrome = MARFANS
M = Mitral valve prolapsed, Myopia
A = Arachnodactyly (Walker* and steinberg sign**)
R = Relaxation of joints – Retinal detachment, hyperelasticity
F = Familial (dominant inherited)
A = Aortic dilatation or dissection, Aortic regurgitation
N = Normal intelligence
S = Skeletal – Pectus excavatum or carinatum, reduced upper to lower body segment ratio < 0.85 or arm span-to-height ratio >1.05, Scoliosis, Spontaneous pneumothorax, Subluxation of lens
*Walker signs –In this test, the patient need to wrap his/her wrist using the first and fifth finger of the other hand. The test is positive if the distal phalanges of the first and fifth fingers of the opposite hand is overlapped.
**Steinberg sign – In this test, the patient need to oppose his/her thumb within the clenched hand. The test is positive if the thumb projects beyond the ulnar border.
Reference:
- Chew Nee Kong et al. X’press Revision in short cases aids to undergraduate medicine. 2008. University of Malaya Press.
