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Progressive pseudorheumatoid dysplasia

ORPHA:1159 · Disease · Disorder

HPO 表現型（共 45 項）

Very frequent (99-80%)(7)

  • Irregular vertebral endplatesHP:0003301
  • Joint swellingHP:0001386
  • Narrow small joints of the handHP:0004267
  • PlatyspondylyHP:0000926
  • Polyarticular arthropathyHP:0005195
  • Spondyloepiphyseal dysplasiaHP:0002655
  • Waddling gaitHP:0002515

Frequent (79-30%)(18)

  • Abnormal hip joint morphologyHP:0001384
  • Abnormality of hand joint mobilityHP:0006256
  • Abnormality of the elbowHP:0009811
  • Abnormality of the kneeHP:0002815
  • ArthralgiaHP:0002829
  • CamptodactylyHP:0012385
  • Easy fatigabilityHP:0003388
  • Hyperconvex vertebral body endplatesHP:0004603
  • Infancy onset short-trunk short statureHP:0011406
  • Irregularity of vertebral bodiesHP:0004582
  • Joint contracture of the handHP:0009473
  • Limitation of joint mobilityHP:0001376
  • Muscle weaknessHP:0001324
  • ScoliosisHP:0002650
  • Short statureHP:0004322
  • Thoracolumbar kyphoscoliosisHP:0003423
  • Vertebral wedgingHP:0008422
  • Wrist swellingHP:0001225

Occasional (29-5%)(17)

  • Abnormal ilium morphologyHP:0002867
  • Abnormal shoulder morphologyHP:0003043
  • Abnormality of the neckHP:0000464
  • Beaking of vertebral bodiesHP:0004568
  • Broad femoral neckHP:0006429
  • Coxa varaHP:0002812
  • Enlarged epiphysesHP:0010580
  • Enlarged interphalangeal jointsHP:0006247
  • Enlargement of the proximal femoral epiphysisHP:0003371
  • Flat capital femoral epiphysisHP:0003370
  • Generalized osteoporosisHP:0040160
  • Genu valgumHP:0002857
  • Genu varumHP:0002970
  • HyperlordosisHP:0003307
  • Irregular acetabular roofHP:0008833
  • Periarticular calcificationHP:0025477
  • Short femoral neckHP:0100864

Excluded (0%)(3)

  • Abnormal circulating C-reactive protein concentrationHP:0032436
  • Abnormal erythrocyte sedimentation rateHP:0025021
  • Rheumatoid factor positiveHP:0002923