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Caffey disease

ORPHA:1310 · Malformation syndrome · Disorder

HPO 表現型(共 14 項)

Very frequent (99-80%)(2)

  • CellulitisHP:0100658
  • Cortical irregularityHP:0005731

Frequent (79-30%)(4)

  • Atypical behaviorHP:0000708
  • FeverHP:0001945
  • HyperesthesiaHP:0100963
  • Periosteal thickening of long tubular bonesHP:0006465

Occasional (29-5%)(8)

  • Calvarial hyperostosisHP:0004490
  • Cortical thickening of long bone diaphysesHP:0005791
  • Facial asymmetryHP:0000324
  • Feeding difficulties in infancyHP:0008872
  • Increased circulating immunoglobulin concentrationHP:0010702
  • ProptosisHP:0000520
  • Respiratory insufficiencyHP:0002093
  • ScoliosisHP:0002650