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Leri pleonosteosis

ORPHA:2900 · Malformation syndrome · Disorder

HPO 表現型（共 23 項）

Very frequent (99-80%)(15)

  • Abnormal epiphysis morphologyHP:0005930
  • Abnormal finger morphologyHP:0001167
  • Abnormal metacarpal morphologyHP:0005916
  • Abnormal metaphysis morphologyHP:0000944
  • Abnormal vertebral body morphologyHP:0003312
  • BrachydactylyHP:0001156
  • Broad thumbHP:0011304
  • Camptodactyly of fingerHP:0100490
  • Gait disturbanceHP:0001288
  • Genu recurvatumHP:0002816
  • Joint stiffnessHP:0001387
  • Lack of skin elasticityHP:0100679
  • Severe short statureHP:0003510
  • Thickened skinHP:0001072
  • Upslanted palpebral fissureHP:0000582

Frequent (79-30%)(6)

  • Abnormally straight spineHP:0100795
  • BlepharophimosisHP:0000581
  • Cubitus valgusHP:0002967
  • ScoliosisHP:0002650
  • Short palpebral fissureHP:0012745
  • Subcutaneous noduleHP:0001482

Occasional (29-5%)(2)

  • Elbow dislocationHP:0003042
  • StrabismusHP:0000486