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Pyle disease

ORPHA:3005 · Disease · Disorder

HPO 表現型（共 18 項）

Very frequent (99-80%)(2)

  • Erlenmeyer flask deformity of the femursHP:0004975
  • Genu valgumHP:0002857

Frequent (79-30%)(8)

  • Carious teethHP:0000670
  • Craniofacial osteosclerosisHP:0005464
  • Dental malocclusionHP:0000689
  • Enlarged metaphysesHP:0003051
  • Increased susceptibility to fracturesHP:0002659
  • Mandibular prognathiaHP:0000303
  • Medial widening of clavicleHP:0006599
  • Protruding earHP:0000411

Occasional (29-5%)(8)

  • ArthralgiaHP:0002829
  • Back painHP:0003418
  • Delayed eruption of permanent teethHP:0000696
  • Muscle weaknessHP:0001324
  • PlatyspondylyHP:0000926
  • ScoliosisHP:0002650
  • Thin calvariumHP:0010539
  • Wormian bonesHP:0002645