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Progressive non-infectious anterior vertebral fusion

ORPHA:2062 · Malformation syndrome · Disorder

HPO 表現型（共 27 項）

Very frequent (99-80%)(18)

  • Abnormal intervertebral disk morphologyHP:0005108
  • Abnormality of the vertebral columnHP:0000925
  • BrachycephalyHP:0000248
  • Depressed nasal bridgeHP:0005280
  • Downslanted palpebral fissuresHP:0000494
  • Flat faceHP:0012368
  • HemivertebraeHP:0002937
  • HypertelorismHP:0000316
  • KyphosisHP:0002808
  • Large handsHP:0001176
  • MicrognathiaHP:0000347
  • Round faceHP:0000311
  • ScoliosisHP:0002650
  • Short philtrumHP:0000322
  • Thickened skinHP:0001072
  • Thin vermilion borderHP:0000233
  • Wide mouthHP:0000154
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(9)

  • Abdominal situs inversusHP:0003363
  • Abnormal facial shapeHP:0001999
  • Bone painHP:0002653
  • ExostosesHP:0100777
  • Joint stiffnessHP:0001387
  • Morphological central nervous system abnormalityHP:0002011
  • Proximal radio-ulnar synostosisHP:0005037
  • Spinal rigidityHP:0003306
  • Tall statureHP:0000098