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Osteoporosis-pseudoglioma syndrome

ORPHA:2788 · Disease · Disorder

HPO 表現型（共 34 項）

Very frequent (99-80%)(2)

  • Increased susceptibility to fracturesHP:0002659
  • OsteoporosisHP:0000939

Frequent (79-30%)(17)

  • Abnormal lower limb bone morphologyHP:0040069
  • Abnormal vitreous humor morphologyHP:0004327
  • Angle closure glaucomaHP:0012109
  • Congenital blindnessHP:0007875
  • Corneal opacityHP:0007957
  • Crumpled long bonesHP:0006367
  • Decreased circulating calcitriol concentrationHP:0012052
  • Exudative retinopathyHP:0007898
  • Exudative vitreoretinopathyHP:0030490
  • Floppy infantHP:0008947
  • Joint hypermobilityHP:0001382
  • Loss of ambulationHP:0002505
  • Metaphyseal wideningHP:0003016
  • OsteopeniaHP:0000938
  • Retinal detachmentHP:0000541
  • Severely reduced visual acuityHP:0001141
  • Waddling gaitHP:0002515

Occasional (29-5%)(10)

  • Abnormal femoral neck/head morphologyHP:0003366
  • Congenital nystagmusHP:0006934
  • Delayed gross motor developmentHP:0002194
  • Delayed speech and language developmentHP:0000750
  • Frontal bossingHP:0002007
  • Global developmental delayHP:0001263
  • MicrophthalmiaHP:0000568
  • Short statureHP:0004322
  • Visual acuity light perception with projectionHP:0030551
  • Wormian bonesHP:0002645

Very rare (<4-1%)(5)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Blue scleraeHP:0000592
  • Isosexual precocious pubertyHP:0008236
  • Moderately reduced visual acuityHP:0030515
  • Preauricular skin tagHP:0000384