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Juvenile Paget disease

ORPHA:2801 · Malformation syndrome · Disorder

HPO 表現型（共 17 項）

Very frequent (99-80%)(10)

  • Abnormal clavicle morphologyHP:0000889
  • Abnormality of the dentitionHP:0000164
  • Bowing of the long bonesHP:0006487
  • Coarse metaphyseal trabecularizationHP:0100670
  • Cranial hyperostosisHP:0004437
  • HyperuricemiaHP:0002149
  • MacrocephalyHP:0000256
  • OsteoporosisHP:0000939
  • Recurrent fracturesHP:0002757
  • Short statureHP:0004322

Frequent (79-30%)(5)

  • Abnormal retinal pigmentationHP:0007703
  • Hearing impairmentHP:0000365
  • HypertensionHP:0000822
  • Optic atrophyHP:0000648
  • Pectus carinatumHP:0000768

Occasional (29-5%)(2)

  • Melanocytic nevusHP:0000995
  • Subcutaneous noduleHP:0001482