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Spondyloepiphyseal dysplasia congenita

ORPHA:94068 · Disease · Disorder

HPO 表現型（共 42 項）

Very frequent (99-80%)(6)

  • Aplasia/hypoplasia involving bones of the extremitiesHP:0045060
  • Disproportionate short-trunk short statureHP:0003521
  • Dysplasia of the femoral headHP:0010575
  • Growth delayHP:0001510
  • Lumbar hyperlordosisHP:0002938
  • ScoliosisHP:0002650

Frequent (79-30%)(12)

  • Abnormally ossified vertebraeHP:0100569
  • Coarse facial featuresHP:0000280
  • Flat acetabular roofHP:0003180
  • Flat faceHP:0012368
  • Genu valgumHP:0002857
  • Hip painHP:0030838
  • Increased head circumferenceHP:0040194
  • KyphosisHP:0002808
  • OsteoporosisHP:0000939
  • PlatyspondylyHP:0000926
  • Short neckHP:0000470
  • Upper limb undergrowthHP:0009824

Occasional (29-5%)(24)

  • Abnormal foot morphologyHP:0001760
  • Abnormal respiratory system physiologyHP:0002795
  • Back painHP:0003418
  • Barrel-shaped chestHP:0001552
  • Cervical instabilityHP:0008462
  • Cleft palateHP:0000175
  • GlossoptosisHP:0000162
  • Hearing impairmentHP:0000365
  • HypertelorismHP:0000316
  • Knee painHP:0030839
  • LaryngotracheomalaciaHP:0008755
  • Limited elbow movementHP:0002996
  • MicrognathiaHP:0000347
  • Motor delayHP:0001270
  • MyopiaHP:0000545
  • Reduced bone mineral densityHP:0004349
  • Retinal detachmentHP:0000541
  • Short femoral neckHP:0100864
  • Short femurHP:0003097
  • Short long boneHP:0003026
  • Small epiphysesHP:0010585
  • Spinal cord compressionHP:0002176
  • Spinal rigidityHP:0003306
  • Waddling gaitHP:0002515