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CHST3-related skeletal dysplasia

ORPHA:263463 · Disease · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(18)

  • Abnormal vertebral body morphologyHP:0003312
  • Abnormality of the elbowHP:0009811
  • ArthralgiaHP:0002829
  • Barrel-shaped chestHP:0001552
  • BrachydactylyHP:0001156
  • Cubitus valgusHP:0002967
  • Disproportionate short-trunk short statureHP:0003521
  • Enlarged jointsHP:0003037
  • Flexion contractureHP:0001371
  • Genu valgumHP:0002857
  • HypertelorismHP:0000316
  • Intervertebral space narrowingHP:0002945
  • Irregular epiphysesHP:0010582
  • RhizomeliaHP:0008905
  • ScoliosisHP:0002650
  • Small epiphysesHP:0010585
  • Sparse eyebrowHP:0045075
  • Waddling gaitHP:0002515

Frequent (79-30%)(8)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Broad foreheadHP:0000337
  • Delayed eruption of teethHP:0000684
  • Highly arched eyebrowHP:0002553
  • KyphoscoliosisHP:0002751
  • Long philtrumHP:0000343
  • Motor delayHP:0001270
  • Short metacarpalHP:0010049