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Spondyloepimetaphyseal dysplasia, Irapa type

ORPHA:93351 · Disease · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(20)

  • Abnormal epiphysis morphologyHP:0005930
  • Abnormal joint morphologyHP:0001367
  • Abnormal metaphysis morphologyHP:0000944
  • Abnormal rib morphologyHP:0000772
  • ArthralgiaHP:0002829
  • Broad footHP:0001769
  • Broad palmHP:0001169
  • Coxa varaHP:0002812
  • Disproportionate short-limb short statureHP:0008873
  • Gait disturbanceHP:0001288
  • Genu valgumHP:0002857
  • Limitation of joint mobilityHP:0001376
  • MicromeliaHP:0002983
  • OsteoarthritisHP:0002758
  • Pectus carinatumHP:0000768
  • Pes planusHP:0001763
  • PlatyspondylyHP:0000926
  • Short palmHP:0004279
  • Spondyloepimetaphyseal dysplasiaHP:0002651
  • Upper limb undergrowthHP:0009824

Frequent (79-30%)(4)

  • Hypoplastic pelvisHP:0008839
  • OsteoporosisHP:0000939
  • Short metacarpalHP:0010049
  • Short metatarsalHP:0010743

Occasional (29-5%)(2)

  • Abnormal carpal morphologyHP:0001191
  • Synostosis of carpal bonesHP:0005048