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Ectodermal dysplasia-skin fragility syndrome

ORPHA:158668 · Disease · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(3)

  • Fragile skinHP:0001030
  • Nail dystrophyHP:0008404
  • Palmoplantar keratodermaHP:0000982

Frequent (79-30%)(7)

  • Alopecia universalisHP:0002289
  • Chapped lipHP:0040181
  • Failure to thriveHP:0001508
  • Gait disturbanceHP:0001288
  • HypohidrosisHP:0000966
  • Scaling skinHP:0040189
  • Sparse hairHP:0008070

Occasional (29-5%)(16)

  • Abnormal blistering of the skinHP:0008066
  • Abnormal dental morphologyHP:0006482
  • Abnormal tongue morphologyHP:0030809
  • Abnormality of the dentitionHP:0000164
  • Anoperineal fistulaHP:0005218
  • Carious teethHP:0000670
  • CheilitisHP:0100825
  • Chronic diarrheaHP:0002028
  • Follicular hyperkeratosisHP:0007502
  • PruritusHP:0000989
  • Recurrent pneumoniaHP:0006532
  • Recurrent skin infectionsHP:0001581
  • ScarringHP:0100699
  • SepsisHP:0100806
  • Short statureHP:0004322
  • Urethral strictureHP:0012227