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Mesomelic dwarfism, Reinhardt-Pfeiffer type

ORPHA:2634 · Malformation syndrome · Disorder

HPO 表現型（共 13 項）

Very frequent (99-80%)(10)

  • Abnormal morphology of ulnaHP:0040071
  • Abnormal tibia morphologyHP:0002992
  • Disproportionate short statureHP:0003498
  • Elbow dislocationHP:0003042
  • Fibular hypoplasiaHP:0003038
  • Hypoplasia of the ulnaHP:0003022
  • MicromeliaHP:0002983
  • Radial head subluxationHP:0003048
  • Skin dimpleHP:0010781
  • Ulnar deviation of fingerHP:0009465

Frequent (79-30%)(1)

  • Synostosis of carpal bonesHP:0005048

Occasional (29-5%)(2)

  • MyopiaHP:0000545
  • StrabismusHP:0000486