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Mesomelic dysplasia, Kantaputra type

ORPHA:1836 · Malformation syndrome · Disorder

HPO 表現型（共 15 項）

Very frequent (99-80%)(8)

  • Abnormal fibula morphologyHP:0002991
  • Abnormal humerus morphologyHP:0031095
  • Abnormality of the ankleHP:0003028
  • Camptodactyly of fingerHP:0100490
  • Dumbbell-shaped humerusHP:0005009
  • MesomeliaHP:0003027
  • Short statureHP:0004322
  • Tarsal synostosisHP:0008368

Frequent (79-30%)(3)

  • Clinodactyly of the 5th fingerHP:0004209
  • Synostosis of carpal bonesHP:0005048
  • Ulnar deviation of fingerHP:0009465

Occasional (29-5%)(4)

  • Abnormal rib morphologyHP:0000772
  • Cubitus valgusHP:0002967
  • TalipesHP:0001883
  • Vertebral segmentation defectHP:0003422