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Eiken syndrome

ORPHA:79106 · Malformation syndrome · Disorder

HPO 表現型（共 23 項）

Very frequent (99-80%)(3)

  • ArthralgiaHP:0002829
  • Epiphyseal dysplasiaHP:0002656
  • Limited elbow flexionHP:0006376

Frequent (79-30%)(20)

  • Abnormal acetabulum morphologyHP:0003170
  • Abnormal bone ossificationHP:0011849
  • Abnormal fingertip morphologyHP:0001211
  • Abnormal trabecular bone morphologyHP:0100671
  • Absence of the sacrumHP:0010305
  • Broad footHP:0001769
  • Broad palmHP:0001169
  • Cubitus valgusHP:0002967
  • Delayed epiphyseal ossificationHP:0002663
  • Fibular hypoplasiaHP:0003038
  • High iliac wingHP:0008808
  • Limited hip movementHP:0008800
  • Metaphyseal irregularityHP:0003025
  • Narrow pelvis boneHP:0003275
  • Short footHP:0001773
  • Short palmHP:0004279
  • Short phalanx of fingerHP:0009803
  • Short statureHP:0004322
  • Short toeHP:0001831
  • Thin bony cortexHP:0002753