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Fibrous dysplasia of bone

ORPHA:249 · Malformation syndrome · Disorder

HPO 表現型（共 62 項）

Obligate (100%)(1)

  • Fibrous dysplasia of the bonesHP:0010734

Very frequent (99-80%)(5)

  • Abnormal axial skeleton morphologyHP:0009121
  • Abnormal bone structureHP:0003330
  • Abnormal skull morphologyHP:0000929
  • Abnormality of limbsHP:0040064
  • OsteolysisHP:0002797

Frequent (79-30%)(15)

  • Abnormal facial skeleton morphologyHP:0011821
  • Abnormal femur morphologyHP:0002823
  • Abnormal mandible morphologyHP:0000277
  • Abnormal maxilla morphologyHP:0000326
  • Abnormal zygomatic bone morphologyHP:0010668
  • Antalgic gaitHP:0031955
  • Bone painHP:0002653
  • Bowing of the long bonesHP:0006487
  • Cortical irregularityHP:0005731
  • Elevated circulating alkaline phosphatase concentrationHP:0003155
  • HypophosphatemiaHP:0002148
  • Patchy reduction of bone mineral densityHP:0010657
  • Pathologic fractureHP:0002756
  • RicketsHP:0002748
  • Thin bony cortexHP:0002753

Occasional (29-5%)(22)

  • Abnormal clavicle morphologyHP:0000889
  • Abnormal frontal bone morphologyHP:0430000
  • Abnormal humerus morphologyHP:0031095
  • Abnormal lumbar spine morphologyHP:0100712
  • Abnormal morphology of the radiusHP:0002818
  • Abnormal morphology of ulnaHP:0040071
  • Abnormal occipital bone morphologyHP:0012294
  • Abnormal parietal bone morphologyHP:0002696
  • Abnormal pelvis bone morphologyHP:0040163
  • Abnormal rib morphologyHP:0000772
  • Abnormal temporal bone morphologyHP:0009911
  • Abnormal tibia morphologyHP:0002992
  • Abnormality of the cervical spineHP:0003319
  • Abnormality of the sphenoid sinusHP:0430022
  • Coxa varaHP:0002812
  • Functional motor deficitHP:0004302
  • Gait disturbanceHP:0001288
  • Irregularly spaced teethHP:0006316
  • Lower limb asymmetryHP:0100559
  • OsteomalaciaHP:0002749
  • ScoliosisHP:0002650
  • Short statureHP:0004322

Very rare (<4-1%)(19)

  • Abnormality of the endocrine systemHP:0000818
  • Cutaneous myxomaHP:0030428
  • Diabetes mellitusHP:0000819
  • Elevated circulating growth hormone concentrationHP:0000845
  • Hearing impairmentHP:0000365
  • HypercalcemiaHP:0003072
  • HyperpituitarismHP:0010514
  • HyperthyroidismHP:0000836
  • Increased circulating cortisol levelHP:0003118
  • Large cafe-au-lait macules with irregular marginsHP:0005605
  • Multiple cafe-au-lait spotsHP:0007565
  • Neoplasm of the breastHP:0100013
  • OsteosarcomaHP:0002669
  • Ovarian cystHP:0000138
  • ParesthesiaHP:0003401
  • Precocious puberty in femalesHP:0010465
  • Testicular neoplasmHP:0010788
  • Thyroid carcinomaHP:0002890
  • Visual lossHP:0000572