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Bruck syndrome

ORPHA:2771 · Malformation syndrome · Disorder

HPO 表現型（共 14 項）

Very frequent (99-80%)(6)

  • Arthrogryposis multiplex congenitaHP:0002804
  • Joint stiffnessHP:0001387
  • OsteoporosisHP:0000939
  • Recurrent fracturesHP:0002757
  • Short statureHP:0004322
  • Wormian bonesHP:0002645

Frequent (79-30%)(6)

  • KyphosisHP:0002808
  • PterygiumHP:0001059
  • Respiratory insufficiencyHP:0002093
  • ScoliosisHP:0002650
  • Talipes equinovarusHP:0001762
  • Triangular faceHP:0000325

Occasional (29-5%)(2)

  • Bowing of the long bonesHP:0006487
  • PlatyspondylyHP:0000926