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Langer mesomelic dysplasia

ORPHA:2632 · Malformation syndrome · Disorder

HPO 表現型（共 13 項）

Very frequent (99-80%)(13)

  • Abnormal carpal morphologyHP:0001191
  • Abnormal epiphysis morphologyHP:0005930
  • Abnormal morphology of ulnaHP:0040071
  • Aplasia/Hypoplasia of the fibulaHP:0006492
  • Bowing of the long bonesHP:0006487
  • Disproportionate short-limb short statureHP:0008873
  • High palateHP:0000218
  • Madelung deformityHP:0003067
  • Mesomelic/rhizomelic limb shorteningHP:0005026
  • MicromeliaHP:0002983
  • Severe short statureHP:0003510
  • Short femoral neckHP:0100864
  • Ulnar deviation of fingerHP:0009465