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CINCA syndrome

ORPHA:1451 · Disease · Disorder

HPO 表現型（共 44 項）

Very frequent (99-80%)(20)

  • Abnormal granulocyte morphologyHP:0001911
  • Abnormality of neutrophilsHP:0001874
  • ArthralgiaHP:0002829
  • BrachydactylyHP:0001156
  • Elevated circulating C-reactive protein concentrationHP:0011227
  • Elevated erythrocyte sedimentation rateHP:0003565
  • FatigueHP:0012378
  • FeverHP:0001945
  • Hearing impairmentHP:0000365
  • Increased intracranial pressureHP:0002516
  • Inflammatory abnormality of the eyeHP:0100533
  • MeningitisHP:0001287
  • MigraineHP:0002076
  • MyalgiaHP:0003326
  • Nausea and vomitingHP:0002017
  • PapuleHP:0200034
  • PseudopapilledemaHP:0000538
  • Sensorineural hearing impairmentHP:0000407
  • UrticariaHP:0001025
  • UveitisHP:0000554

Frequent (79-30%)(15)

  • Abnormal joint morphologyHP:0001367
  • Abnormality of thrombocytesHP:0001872
  • AnemiaHP:0001903
  • Delayed closure of the anterior fontanelleHP:0001476
  • EdemaHP:0000969
  • Frontal bossingHP:0002007
  • HepatomegalyHP:0002240
  • Increased total leukocyte countHP:0001974
  • Joint dislocationHP:0001373
  • LymphadenopathyHP:0002716
  • MacrocephalyHP:0000256
  • ProptosisHP:0000520
  • Skeletal dysplasiaHP:0002652
  • SplenomegalyHP:0001744
  • Visual impairmentHP:0000505

Occasional (29-5%)(9)

  • BlindnessHP:0000618
  • EEG abnormalityHP:0002353
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • Intellectual disabilityHP:0001249
  • Premature birthHP:0001622
  • PurpuraHP:0000979
  • Reduced bone mineral densityHP:0004349
  • Retrobulbar optic neuritisHP:0100654