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Multiple epiphyseal dysplasia type 1

ORPHA:93308 · Disease · Disorder

HPO 表現型（共 21 項）

Frequent (79-30%)(6)

  • Arthralgia of the hipHP:0003365
  • Gait disturbanceHP:0001288
  • Hip dysplasiaHP:0001385
  • Knee painHP:0030839
  • Postexertional symptom exacerbationHP:0030973
  • Short long boneHP:0003026

Occasional (29-5%)(10)

  • Abnormal acetabulum morphologyHP:0003170
  • Ankle painHP:0030840
  • Delayed epiphyseal ossificationHP:0002663
  • Disproportionate short statureHP:0003498
  • Finger joint hypermobilityHP:0006094
  • Joint stiffnessHP:0001387
  • Knee joint hypermobilityHP:0045086
  • Limitation of joint mobilityHP:0001376
  • OsteoarthritisHP:0002758
  • Waddling gaitHP:0002515

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

  • Avascular necrosis of the capital femoral epiphysisHP:0005743
  • Coxa varaHP:0002812
  • Genu valgumHP:0002857
  • Genu varumHP:0002970

Excluded (0%)(1)

  • BrachydactylyHP:0001156