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Gorham-Stout disease

ORPHA:73 · Malformation syndrome · Disorder

HPO 表現型（共 36 項）

Very frequent (99-80%)(3)

  • Elevated alkaline phosphatase of bone originHP:0010639
  • OsteolysisHP:0002797
  • Patchy reduction of bone mineral densityHP:0010657

Frequent (79-30%)(19)

  • Abnormal bone ossificationHP:0011849
  • Abnormal calvaria morphologyHP:0002683
  • Abnormal facial skeleton morphologyHP:0011821
  • Abnormal occipital bone morphologyHP:0012294
  • Abnormality of the cervical spineHP:0003319
  • Abnormality of the internal auditory canalHP:0011384
  • Abnormality of the temporomandibular jointHP:0010754
  • Bone painHP:0002653
  • Cortical irregularityHP:0005731
  • EdemaHP:0000969
  • Functional motor deficitHP:0004302
  • Impaired masticationHP:0005216
  • LymphangiomaHP:0100764
  • Mandibular painHP:0200025
  • Osteolysis involving bones of the lower limbsHP:0009139
  • Osteolysis involving bones of the upper limbsHP:0045039
  • OsteopeniaHP:0000938
  • RhinorrheaHP:0031417
  • TorticollisHP:0000473

Occasional (29-5%)(10)

  • Abnormal ethmoid bone morphologyHP:0430005
  • Abnormal femur morphologyHP:0002823
  • Abnormal finger morphologyHP:0001167
  • Abnormality of the thoracic cavityHP:0045027
  • Chiari type I malformationHP:0007099
  • Hearing impairmentHP:0000365
  • HemangiomatosisHP:0007461
  • MastoiditisHP:0000265
  • Pathologic fractureHP:0002756
  • Pleural effusionHP:0002202

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

  • Abnormal pelvis bone morphologyHP:0040163
  • MeningitisHP:0001287
  • OsteomyelitisHP:0002754
  • Spinal cord compressionHP:0002176