MARFAN'S syndrome
M
- Micro fibrillin protein [ Fibrillin 1 ]
- Mitral valve prolapse
- Mental retardation is not present *
- Myopia due to upward dislocation of Lense [ B/L ectopic lentis ]
A = Aortic root dilatation [ Can cause aortic dissection & aneurysm ]
Aortic regurgitation
R = Retinal detachment
F = Fibrillin 1 gene
Fifteen [ Chromosome 15 is involved ]
Flat feet
[P= Pectus excavatum ]
[H= High arched palate, Hammer toes ] [ Remember as MARPHANS Instead of MARFAN'S ]
A = Arachnodactyly
Astigmatism
Air in lungs [ Pneumothorax ]-> Pain, SOB, Cyanosis
N = Nitroprusside test -Negative **
Nearsightedness
S = Subluxation of Lens [ Upward dislocation of Lense or Superotemporal dislocation] ***
Scoliosis
Speech disorders due to High arched palate & small jaws
Sleep apnea
Spinal Cord= Dural ectasia [ Widening of ballooning of dural sac surrounding the spinal cord ]
Note:
Differentiate from Homocysteinuria
* = Mental retardation is present in Homocysteinuria
** = Urine Cyanide Nitruprusside test positive in Homocysnteinuria
*** = Downward dislocation of Lense in Homocysteinuria [ Inferonasal dislocation ]