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Multiple Epiphyseal Dysplasia


  • multiple epiphyseal dysplasia (a common type of osteochondrodysplasia) is characterized by disturbance of normal
    ossification w/ in epiphysis;

  • is inherited as an autosomal dominant trait with variable expressivity;
  • disorder is manifested as multiple areas of abnormal growth and ossification of the epiphysis;
  • dz tends to be bilaterally symmetrical and to affect predominantly hips, knees, ankles, and wrists;
  • irregularities of joint surfaces often lead to degenerative arthritis, w/ significant disability by third or fourth decade;
  • diminution in stature is present although not severe, ranges from 145 to 170 cm in adults;
  • not often manifestated until age 5-14 yr;
  • hips, knees, & ankles are affected primarily;
  • COMP - collagen type IX is defective in multiple epiphyseal dysplasia;

Diff Dx »


  • milder form (Ribbing) and a more severe form (Faibank) exist;
    • diagnosis is based on radiographic characteristics;
  • in severe type of this disorder, the epiphyseal ossification centers are small and frequently fragmented;
  • irregular and/or delayed ossification at multiple epiphyses
  • ossific centers appear late and are fragmented and irregular;

Clinical Manifestations


  • T12/L1 notching and deformed ring apophysis;


  • up to 1/3 can expect to have shoulder symptoms sometime during their lives;
  • many will remain asymptomatic until middle age, when DJD
    causes bilateral symmetric pain with minimal loss of motion;


  • short, stunted metacarpals/metatarsals;


  • irregular femora which is bilateral and symmetric, is not assoc w/ metaphyseal cysts, and commonly has early acetabular changes;


  • genu valgum is common (consider early osteotomy);
  • abnormal normal ossification (tibial "slant sign")
  • flattened femoral condyles