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Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia

ORPHA:166277 · Malformation syndrome · Disorder

HPO 表現型（共 13 項）

Very frequent (99-80%)(2)

  • Concave nasal ridgeHP:0011120
  • Dentinogenesis imperfectaHP:0000703

Frequent (79-30%)(8)

  • Abnormal cortical bone morphologyHP:0003103
  • DolichocephalyHP:0000268
  • HypertelorismHP:0000316
  • Pathologic fractureHP:0002756
  • Periorbital fullnessHP:0000629
  • Short statureHP:0004322
  • Upper limb undergrowthHP:0009824
  • Wormian bonesHP:0002645

Occasional (29-5%)(3)

  • Limitation of joint mobilityHP:0001376
  • Short footHP:0001773
  • Toe clinodactylyHP:0001863