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Stiff skin syndrome

ORPHA:2833 · Disease · Disorder

HPO 表現型（共 24 項）

Very frequent (99-80%)(3)

  • Lack of skin elasticityHP:0100679
  • Limitation of joint mobilityHP:0001376
  • Thickened skinHP:0001072

Frequent (79-30%)(2)

  • Hyperpigmentation of the skinHP:0000953
  • HypertrichosisHP:0000998

Occasional (29-5%)(18)

  • Abnormal circulating lipid concentrationHP:0003119
  • Abnormality of the musculatureHP:0003011
  • Aplasia/Hypoplasia of the skinHP:0008065
  • Decreased body weightHP:0004325
  • GlaucomaHP:0000501
  • HypertensionHP:0000822
  • Impaired pain sensationHP:0007328
  • Kidney stoneHP:0000787
  • LipoatrophyHP:0100578
  • Midface retrusionHP:0011800
  • Muscle weaknessHP:0001324
  • Peripheral neuropathyHP:0009830
  • Retinal detachmentHP:0000541
  • Sensorineural hearing impairmentHP:0000407
  • Short statureHP:0004322
  • StrabismusHP:0000486
  • Subcutaneous noduleHP:0001482
  • Type II diabetes mellitusHP:0005978

Very rare (<4-1%)(1)

  • Autoimmune antibody positivityHP:0030057