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Campomelic dysplasia

ORPHA:140 · Malformation syndrome · Disorder

HPO 表現型（共 38 項）

Very frequent (99-80%)(21)

  • 11 pairs of ribsHP:0000878
  • Bowing of the long bonesHP:0006487
  • Cleft palateHP:0000175
  • Fibular hypoplasiaHP:0003038
  • Flat faceHP:0012368
  • Hip dislocationHP:0002827
  • Hypoplastic inferior iliaHP:0008821
  • LaryngomalaciaHP:0001601
  • MacrocephalyHP:0000256
  • MicrognathiaHP:0000347
  • Narrow chestHP:0000774
  • Poorly ossified cervical vertebraeHP:0008477
  • Recurrent fracturesHP:0002757
  • Respiratory insufficiencyHP:0002093
  • ScoliosisHP:0002650
  • Short long boneHP:0003026
  • Short neckHP:0000470
  • Small abnormally formed scapulaeHP:0006584
  • Tibial bowingHP:0002982
  • TracheobronchomalaciaHP:0002786
  • TracheomalaciaHP:0002779

Frequent (79-30%)(9)

  • Ambiguous genitaliaHP:0000062
  • Femoral bowingHP:0002980
  • HypertelorismHP:0000316
  • Low-set earsHP:0000369
  • Male pseudohermaphroditismHP:0000037
  • ProptosisHP:0000520
  • Short statureHP:0004322
  • Skin dimpleHP:0010781
  • Talipes equinovarusHP:0001762

Occasional (29-5%)(8)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormality of the sense of smellHP:0004408
  • Depressed nasal bridgeHP:0005280
  • Hearing impairmentHP:0000365
  • HydronephrosisHP:0000126
  • Hypoplasia of olfactory tractHP:0007036
  • KyphosisHP:0002808
  • VentriculomegalyHP:0002119