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Mesomelic dwarfism-cleft palate-camptodactyly syndrome

ORPHA:2631 · Malformation syndrome · Disorder

HPO 表現型（共 17 項）

Very frequent (99-80%)(8)

  • Abnormal hip bone morphologyHP:0003272
  • Bowing of the long bonesHP:0006487
  • Camptodactyly of fingerHP:0100490
  • Cleft palateHP:0000175
  • Elbow dislocationHP:0003042
  • MesomeliaHP:0003027
  • RetrognathiaHP:0000278
  • Skin dimpleHP:0010781

Frequent (79-30%)(9)

  • Abnormal epiphysis morphologyHP:0005930
  • Abnormal lung lobationHP:0002101
  • Abnormal metacarpal morphologyHP:0005916
  • Abnormal metaphysis morphologyHP:0000944
  • Overfolded helixHP:0000396
  • Posteriorly rotated earsHP:0000358
  • Pulmonary hypoplasiaHP:0002089
  • Thin vermilion borderHP:0000233
  • Vertebral segmentation defectHP:0003422