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Pseudoachondroplasia

ORPHA:750 · Disease · Disorder

HPO 表現型（共 45 項）

Very frequent (99-80%)(2)

  • Disproportionate short-limb short statureHP:0008873
  • Joint hypermobilityHP:0001382

Frequent (79-30%)(20)

  • Abnormal vertebral body morphologyHP:0003312
  • ArthralgiaHP:0002829
  • BrachydactylyHP:0001156
  • Delayed epiphyseal ossificationHP:0002663
  • Distal joint hypermobilityHP:0020152
  • Generalized joint hypermobilityHP:0002761
  • Increased laxity of fingersHP:0006149
  • Irregular epiphysesHP:0010582
  • Knee joint hypermobilityHP:0045086
  • Limb undergrowthHP:0009826
  • Lumbar hyperlordosisHP:0002938
  • Metaphyseal irregularityHP:0003025
  • Metaphyseal wideningHP:0003016
  • OsteoarthritisHP:0002758
  • PlatyspondylyHP:0000926
  • Short long boneHP:0003026
  • Short phalanx of fingerHP:0009803
  • Shortening of all metacarpalsHP:0005720
  • Waddling gaitHP:0002515
  • Wind-swept deformity of the kneesHP:0100531

Occasional (29-5%)(21)

  • Abnormal femoral epiphysis morphologyHP:0006499
  • Abnormal ossification involving the femoral head and neckHP:0009107
  • Acetabular dysplasiaHP:0008807
  • Ankle hypermobilityHP:0006460
  • Beaking of vertebral bodiesHP:0004568
  • Cone-shaped epiphysisHP:0010579
  • Flared metaphysisHP:0003015
  • Flat acetabular roofHP:0003180
  • Genu valgumHP:0002857
  • Genu varumHP:0002970
  • Hypoplasia of the capital femoral epiphysisHP:0003090
  • Hypoplastic pelvisHP:0008839
  • Irregular acetabular roofHP:0008833
  • Irregular carpal bonesHP:0004236
  • Joint stiffnessHP:0001387
  • Limited elbow extensionHP:0001377
  • Limited hip extensionHP:0003093
  • ScoliosisHP:0002650
  • Short femoral neckHP:0100864
  • Skeletal myopathyHP:0003756
  • Small epiphysesHP:0010585

Very rare (<4-1%)(2)

  • Cervical spine instabilityHP:0010646
  • Hypoplasia of the odontoid processHP:0003311