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Acromicric dysplasia

ORPHA:969 · Malformation syndrome · Disorder

HPO 表現型（共 22 項）

Very frequent (99-80%)(10)

  • Abnormal eyebrow morphologyHP:0000534
  • Anteverted naresHP:0000463
  • BrachydactylyHP:0001156
  • Long eyelashesHP:0000527
  • Long philtrumHP:0000343
  • Round faceHP:0000311
  • Severe short statureHP:0003510
  • Short noseHP:0003196
  • Short palmHP:0004279
  • Small handHP:0200055

Frequent (79-30%)(4)

  • Bulbous noseHP:0000414
  • Decreased nerve conduction velocityHP:0000762
  • Narrow mouthHP:0000160
  • Thick lower lip vermilionHP:0000179

Occasional (29-5%)(8)

  • Abnormal epiphysis morphologyHP:0005930
  • Abnormal femur morphologyHP:0002823
  • Delayed skeletal maturationHP:0002750
  • Fifth metacarpal with ulnar notchHP:0005900
  • Hoarse voiceHP:0001609
  • Joint stiffnessHP:0001387
  • Ovoid vertebral bodiesHP:0003300
  • Short metacarpalHP:0010049