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Isolated Klippel-Feil syndrome

ORPHA:2345 · Malformation syndrome · Disorder

HPO 表現型（共 32 項）

Very frequent (99-80%)(8)

  • Abnormal vertebral segmentation and fusionHP:0005640
  • Abnormality of the vertebral columnHP:0000925
  • Cervical C2/C3 vertebral fusionHP:0004602
  • Facial asymmetryHP:0000324
  • Limitation of neck motionHP:0005986
  • Low posterior hairlineHP:0002162
  • Short neckHP:0000470
  • Webbed neckHP:0000465

Frequent (79-30%)(10)

  • Abnormal rib morphologyHP:0000772
  • Abnormal shoulder morphologyHP:0003043
  • Abnormality of the genitourinary systemHP:0000119
  • Congenital muscular torticollisHP:0005988
  • HeadacheHP:0002315
  • Hearing impairmentHP:0000365
  • Neck painHP:0030833
  • ScoliosisHP:0002650
  • Spina bifida occultaHP:0003298
  • Sprengel anomalyHP:0000912

Occasional (29-5%)(14)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal cranial nerve morphologyHP:0001291
  • Abnormal sacrum morphologyHP:0005107
  • Anal atresiaHP:0002023
  • Cleft palateHP:0000175
  • Cognitive impairmentHP:0100543
  • Ectopic anusHP:0004397
  • Ectopic kidneyHP:0000086
  • Hemiplegia/hemiparesisHP:0004374
  • Renal hypoplasia/aplasiaHP:0008678
  • Spina bifidaHP:0002414
  • Spinal canal stenosisHP:0003416
  • SynkinesisHP:0034980
  • Ventricular septal defectHP:0001629