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Dysplasia epiphysealis hemimelica

ORPHA:1822 · Malformation syndrome · Disorder

HPO 表現型（共 16 項）

Very frequent (99-80%)(10)

  • Abnormal epiphysis morphologyHP:0005930
  • Accelerated skeletal maturationHP:0005616
  • Asymmetric growthHP:0100555
  • Bone painHP:0002653
  • ExostosesHP:0100777
  • Irregular epiphysesHP:0010582
  • Joint stiffnessHP:0001387
  • OsteoarthritisHP:0002758
  • Pes planusHP:0001763
  • Tarsal synostosisHP:0008368

Frequent (79-30%)(2)

  • Genu valgumHP:0002857
  • Genu varumHP:0002970

Occasional (29-5%)(4)

  • Abnormal femoral neck morphologyHP:0003367
  • Abnormal femur morphologyHP:0002823
  • Flattened femoral headHP:0008812
  • Recurrent fracturesHP:0002757