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Kabuki syndrome

ORPHA:2322 · Malformation syndrome · Disorder

HPO 表現型（共 92 項）

Very frequent (99-80%)(18)

  • Abnormal dermatoglyphicsHP:0007477
  • Abnormal vertebral body morphologyHP:0003312
  • Abnormality of the outer earHP:0000356
  • Butterfly vertebraeHP:0003316
  • Eversion of lateral third of lower eyelidsHP:0007655
  • HemivertebraeHP:0002937
  • Highly arched eyebrowHP:0002553
  • Intellectual disabilityHP:0001249
  • Long eyelashesHP:0000527
  • MacrotiaHP:0000400
  • Neurodevelopmental delayHP:0012758
  • Postnatal growth retardationHP:0008897
  • Protruding earHP:0000411
  • Short 5th fingerHP:0009237
  • Short columellaHP:0002000
  • Short middle phalanx of fingerHP:0005819
  • Sparse lateral eyebrowHP:0005338
  • Vertebral cleftingHP:0008428

Frequent (79-30%)(38)

  • Abnormal cardiac septum morphologyHP:0001671
  • Abnormal dental morphologyHP:0006482
  • Abnormal heart morphologyHP:0001627
  • Abnormality of the dentitionHP:0000164
  • Abnormality of the urinary systemHP:0000079
  • Absent pubertal growth spurtHP:0031087
  • Cerebral cortical atrophyHP:0002120
  • Chronic otitis mediaHP:0000389
  • Cleft lipHP:0410030
  • Cleft palateHP:0000175
  • Coarctation of aortaHP:0001680
  • Conductive hearing impairmentHP:0000405
  • Depressed nasal tipHP:0000437
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Floppy infantHP:0008947
  • High palateHP:0000218
  • HydrocephalusHP:0000238
  • HypodontiaHP:0000668
  • HypotoniaHP:0001252
  • Joint dislocationHP:0001373
  • Joint hypermobilityHP:0001382
  • Long palpebral fissureHP:0000637
  • Marcus Gunn jaw winking synkinesisHP:0025186
  • MicrocephalyHP:0000252
  • MicrodontiaHP:0000691
  • Orofacial cleftHP:0000202
  • Peters anomalyHP:0000659
  • Premature thelarcheHP:0010314
  • Prominent fingertip padsHP:0001212
  • PtosisHP:0000508
  • Recurrent infectionsHP:0002719
  • ScoliosisHP:0002650
  • Sensorineural hearing impairmentHP:0000407
  • Short statureHP:0004322
  • StrabismusHP:0000486
  • VentriculomegalyHP:0002119
  • Widely spaced teethHP:0000687

Occasional (29-5%)(31)

  • Abnormal localization of kidneyHP:0100542
  • Atrial septal defectHP:0001631
  • Autistic behaviorHP:0000729
  • Blue scleraeHP:0000592
  • BrachydactylyHP:0001156
  • Clinodactyly of the 5th fingerHP:0004209
  • ColobomaHP:0000589
  • Congenital diaphragmatic herniaHP:0000776
  • Crossed fused renal ectopiaHP:0004736
  • CryptorchidismHP:0000028
  • Decreased circulating IgA concentrationHP:0002720
  • Duplicated collecting systemHP:0000081
  • EEG abnormalityHP:0002353
  • Gastroesophageal refluxHP:0002020
  • Hip dislocationHP:0002827
  • HydronephrosisHP:0000126
  • HypertrichosisHP:0000998
  • Hypoplasia of penisHP:0008736
  • HypospadiasHP:0000047
  • LagophthalmosHP:0030001
  • Lip pitHP:0100267
  • MicrocorneaHP:0000482
  • NystagmusHP:0000639
  • ObesityHP:0001513
  • Preauricular skin tagHP:0000384
  • Precocious pubertyHP:0000826
  • Reduced circulating growth hormone concentrationHP:0034323
  • Renal hypoplasia/aplasiaHP:0008678
  • SeizureHP:0001250
  • Small handHP:0200055
  • Ureteropelvic junction obstructionHP:0000074

Very rare (<4-1%)(5)

  • Anorectal anomalyHP:0012732
  • Hyperinsulinemic hypoglycemiaHP:0000825
  • MicrophthalmiaHP:0000568
  • Optic nerve hypoplasiaHP:0000609
  • PilomatrixomaHP:0030434