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Multiple epiphyseal dysplasia type 5

ORPHA:93311 · Disease · Disorder

HPO 表現型（共 22 項）

Very frequent (99-80%)(2)

  • Delayed proximal femoral epiphyseal ossificationHP:0008828
  • Hip dysplasiaHP:0001385

Frequent (79-30%)(8)

  • Abnormal hip joint morphologyHP:0001384
  • Abnormal upper limb epiphysis morphologyHP:0003839
  • Abnormality of the epiphyses of the feetHP:0010631
  • Genu valgumHP:0002857
  • Genu varumHP:0002970
  • Knee painHP:0030839
  • Mild short statureHP:0003502
  • Premature osteoarthritisHP:0003088

Occasional (29-5%)(11)

  • Abnormal acetabulum morphologyHP:0003170
  • Ankle painHP:0030840
  • Arthralgia of the hipHP:0003365
  • Avascular necrosis of the capital femoral epiphysisHP:0005743
  • Decreased hip abductionHP:0003184
  • Gait disturbanceHP:0001288
  • Intervertebral disk degenerationHP:0008419
  • Joint stiffnessHP:0001387
  • Limited hip movementHP:0008800
  • Multiple small vertebral fracturesHP:0005877
  • Osteoarthritis of the small joints of the handHP:0004268

Very rare (<4-1%)(1)

  • Back painHP:0003418