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Arnold-Chiari malformation type I

ORPHA:268882 · Morphological anomaly · Disorder

HPO 表現型（共 44 項）

Obligate (100%)(1)

  • Chiari type I malformationHP:0007099

Very frequent (99-80%)(4)

  • HeadacheHP:0002315
  • Neck painHP:0030833
  • Recurrent paroxysmal headacheHP:0002331
  • Small posterior fossaHP:0040010

Frequent (79-30%)(27)

  • Abnormal vestibulocochlear nerve morphologyHP:0009591
  • Abnormality of the clivusHP:0010558
  • Abnormality of the eleventh cranial nerveHP:0010825
  • Abnormality of the twelfth cranial nerveHP:0010826
  • Anteriorly placed odontoid processHP:0004608
  • Areflexia of upper limbsHP:0012046
  • Cervical C2/C3 vertebral fusionHP:0004602
  • Cranial nerve compressionHP:0001293
  • Cranial nerve paralysisHP:0006824
  • Distal peripheral sensory neuropathyHP:0007067
  • DysesthesiaHP:0012534
  • DysphagiaHP:0002015
  • Functional abnormality of the inner earHP:0011389
  • Fused cervical vertebraeHP:0002949
  • Gait ataxiaHP:0002066
  • Increased intracranial pressureHP:0002516
  • Lower limb hyperreflexiaHP:0002395
  • MyelopathyHP:0002196
  • NystagmusHP:0000639
  • Progressive cerebellar ataxiaHP:0002073
  • ScoliosisHP:0002650
  • Somatic sensory dysfunctionHP:0003474
  • Stiff neckHP:0025258
  • SyringomyeliaHP:0003396
  • TinnitusHP:0000360
  • VertigoHP:0002321
  • Vocal cord paralysisHP:0001605

Occasional (29-5%)(12)

  • Abnormality of the musculature of the lower limbsHP:0001437
  • Adult onset sensorineural hearing impairmentHP:0008615
  • Babinski signHP:0003487
  • Basilar impressionHP:0005758
  • Basilar invaginationHP:0012366
  • Brain stem compressionHP:0002512
  • Central sleep apneaHP:0010536
  • DiplopiaHP:0000651
  • Fatigable weakness of swallowing musclesHP:0030195
  • Muscle weaknessHP:0001324
  • PhotophobiaHP:0000613
  • Urinary incontinenceHP:0000020