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Marfan's syndrome (comparison with homocystinuria)

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  • inheritance:
    • Marfan's - autosomal dominant
    • homocystinuria - autosomal recessive
  • lens dislocation:
    • Marfan's - upward lens dislocation
    • homocystinuria - downward lens dislocation
  • aortic incompetence:
    • Marfan's - aortic incompetence may occur
    • homocystinuria - heart rarely affected
  • intellectual development:
    • Marfan's - normal
    • homocystinuria - mental retardation
  • other principle features:
    • Marfan's - flat feet, herniae, scoliosis; there is a 50% reduction in life expectancy
    • homocystinuria - osteoporosis, recurrent thromboembolism; characteristic laboratory features - plasma methionine and homocystine levels are elevated, homocystine is excreted in the urine, plasma cystine levels are reduced, positive urine cyanide-nitroprusside test; response to treatment with pyridoxine

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The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

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