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Naegeli-Franceschetti-Jadassohn syndrome

ORPHA:69087 · Disease · Disorder

HPO 表現型（共 30 項）

Very frequent (99-80%)(2)

  • AdermatoglyphiaHP:0007455
  • Reticulated skin pigmentationHP:0007427

Frequent (79-30%)(10)

  • Abnormal dental morphologyHP:0006482
  • Abnormality of the dentitionHP:0000164
  • Decreased number of sweat glandsHP:0007500
  • Dry skinHP:0000958
  • Fragile nailsHP:0001808
  • Heat intoleranceHP:0002046
  • HypohidrosisHP:0000966
  • Malalignment of the great toenailHP:0031282
  • Nail dystrophyHP:0008404
  • Subungual hyperkeratosisHP:0008392

Occasional (29-5%)(18)

  • Acral blisteringHP:0031045
  • AnhidrosisHP:0000970
  • Carious teethHP:0000670
  • Dystrophic toenailHP:0001810
  • Enamel hypoplasiaHP:0006297
  • Flexion contracture of fingerHP:0012785
  • Generalized reticulate brown pigmentationHP:0007599
  • Hyperpigmentation in sun-exposed areasHP:0005586
  • Hypopigmentation of the skinHP:0001010
  • Interphalangeal joint contracture of fingerHP:0001220
  • MiliaHP:0001056
  • OnycholysisHP:0001806
  • Palmoplantar hyperkeratosisHP:0000972
  • Premature loss of teethHP:0006480
  • Punctate palmoplantar hyperkeratosisHP:0007530
  • Supernumerary toothHP:0011069
  • Swelling of proximal interphalangeal jointsHP:0006253
  • Yellow-brown discoloration of the teethHP:0006286