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Odontochondrodysplasia

ORPHA:166272 · Malformation syndrome · Disorder

HPO 表現型（共 22 項）

Very frequent (99-80%)(9)

  • Abnormal metaphysis morphologyHP:0000944
  • Cone-shaped epiphysisHP:0010579
  • Dentinogenesis imperfectaHP:0000703
  • Joint hypermobilityHP:0001382
  • MicromeliaHP:0002983
  • Narrow chestHP:0000774
  • PlatyspondylyHP:0000926
  • Short palmHP:0004279
  • Short statureHP:0004322

Frequent (79-30%)(4)

  • Coxa valgaHP:0002673
  • Delayed eruption of teethHP:0000684
  • ScoliosisHP:0002650
  • Square pelvis boneHP:0003278

Occasional (29-5%)(9)

  • Bowing of the long bonesHP:0006487
  • Death in infancyHP:0001522
  • Depressed nasal bridgeHP:0005280
  • Frontal bossingHP:0002007
  • Patent ductus arteriosusHP:0001643
  • Respiratory distressHP:0002098
  • RetrognathiaHP:0000278
  • Short noseHP:0003196
  • StrabismusHP:0000486