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Marfan’s Syndrome


  • older names include dolichostenomelia (Greek for long, narrow limbs) and dystrophia mesodermalis congenital, typus Marfanis;
  • inherited as an autosomal dominant trait with variable expressivity.
  • characterized by long, thin limbs and by laxity of ligaments;


  • dz of collagen synthesis (possibly the alpha subunit)
  • may have abnormal production of collagen type I (and ? type II);
  • gene for this disorder has been located on long arm of chromosome 15 in gene for fibrillin-1 (FBN-1) mapped to 15q2112;
    • fibrillar protein found in eye, aorta, and several connective tissues;
    • different mutations have been found throughout the gene causing marfan's syndrome;
  • mutations in transforming growth factor-ß receptor 2 (TGFBR2) can also cause Marfan syndrome;


Differential dx

  • mitral valve prolapse syndrome
  • homocystinuria
    • characterized by tall stature, arachnodactyly, sciolosis, metal retardation, osteoporosis, DVT, and ectopic lens;
    • pts w/ clinical features of Marfan's dz but no family history should have urinalysis for homocystine;
  • stickler Syndrome
  • hypermobility syndrome
  • ehlers-danlos syndrome:

Related problems

  • increased length of the limbs as compared with the trunk;
    • arm span-to-height ratio of greater than 1.05;
    • this ratio may be exaggerated by scoliosis;
  • eye
  • cardiac:
  • muscle: hypotonia of muscle
  • spinal anomalies:
    • scoliosis: occurs in over 60 percent of patients and is most often thoracic and convex to the right;
  • pectus deformities
  • aortic regurgitation & AAA;
  • joint laxity:
    • joint laxity is treated conservatively;
    • joint laxity is variable.
    • chronic & recurrent subluxation of patella, shoulder, SC joint, and MP joints of the thumb are common;
    • genu valgum and recurvatum also occur.
    • soft-tissue surgery to correct joint laxity is unsuccessful, and best treatment is therapy aimed at strengthening the muscle;
    • pes planovalgus, characterized by long, thin foot w/ esp long great toe, & unstable ankle often make shoe-fitting difficult;
    • these are be treated w/ orthosis &, rarely, arthrodesis;
    • flexion deformities of the fingers and toes
  • elbow: congenital joint contractures is an important manifestation of Marfan syndrome
  • hand:
    • congenital contractural arachnodactyly (long slender "seida" fingers)
    • thumb sign the thumb projects beyond the ulnar border of the hand, when maximally opposed within the clenched hand,
    • ref: Arachnodactylie. Achard C. Bull Mêm Soc Méd Hôp Paris.1902; 19:834 -43.
  • hip joint: protrusio
  • knee joint: recurrent dislocation of the patella
  • feet: flat feet