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Cranio-osteoarthropathy

ORPHA:1525 · Malformation syndrome · Disorder

HPO 表現型(共 14 項)

Very frequent (99-80%)(4)

  • Abnormal cortical bone morphologyHP:0003103
  • Abnormal skull morphologyHP:0000929
  • Large fontanellesHP:0000239
  • Mottled pigmentationHP:0001070

Frequent (79-30%)(8)

  • Abnormal tibia morphologyHP:0002992
  • Abnormality of the kneeHP:0002815
  • ArthralgiaHP:0002829
  • ArthritisHP:0001369
  • Clubbing of toesHP:0100760
  • Joint stiffnessHP:0001387
  • Joint swellingHP:0001386
  • OsteoarthritisHP:0002758

Occasional (29-5%)(2)

  • Deviation of fingerHP:0004097
  • Eczematoid dermatitisHP:0000964