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Pachydermoperiostosis

ORPHA:2796 · Malformation syndrome · Disorder

HPO 表現型（共 49 項）

Very frequent (99-80%)(8)

  • Abnormal cortical bone morphologyHP:0003103
  • Abnormal epiphysis morphologyHP:0005930
  • Bone painHP:0002653
  • ClubbingHP:0001217
  • HyperhidrosisHP:0000975
  • OsteomyelitisHP:0002754
  • Seborrheic dermatitisHP:0001051
  • Thickened skinHP:0001072

Frequent (79-30%)(19)

  • Abnormal fingernail morphologyHP:0001231
  • Abnormal hair quantityHP:0011362
  • AcneHP:0001061
  • ArthralgiaHP:0002829
  • ArthritisHP:0001369
  • Clubbing of toesHP:0100760
  • Coarse facial featuresHP:0000280
  • Cutis gyrata of scalpHP:0010541
  • Decreased circulating insulin-like growth factor 1 concentrationHP:0030353
  • DiarrheaHP:0002014
  • EdemaHP:0000969
  • High, narrow palateHP:0002705
  • Joint swellingHP:0001386
  • Limitation of joint mobilityHP:0001376
  • Long eyelashesHP:0000527
  • NauseaHP:0002018
  • OsteolysisHP:0002797
  • PeriostosisHP:0030314
  • PtosisHP:0000508

Occasional (29-5%)(22)

  • Abnormal bone marrow cell morphologyHP:0005561
  • Abnormal hair patternHP:0010720
  • AnemiaHP:0001903
  • Avascular necrosisHP:0010885
  • Cerebral palsyHP:0100021
  • Eczematoid dermatitisHP:0000964
  • Elevated circulating growth hormone concentrationHP:0000845
  • Gastrointestinal hemorrhageHP:0002239
  • Genu varumHP:0002970
  • GynecomastiaHP:0000771
  • HepatomegalyHP:0002240
  • Impaired temperature sensationHP:0010829
  • MalabsorptionHP:0002024
  • MyelofibrosisHP:0011974
  • Neoplasm of the lungHP:0100526
  • Neoplasm of the skinHP:0008069
  • OsteoporosisHP:0000939
  • Palmoplantar keratodermaHP:0000982
  • Peptic ulcerHP:0004398
  • ScoliosisHP:0002650
  • Small handHP:0200055
  • SplenomegalyHP:0001744