Kabuki syndrome
MeSH: C537705ORPHA: 2322
Overview
rare disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Kabuki syndrome, sourced from HPO and Orphanet clinical annotations.
PtosisLong palpebral fissurePeters anomalyHypodontiaWidely spaced teethMicrodontiaProminent fingertip padsHypotoniaJoint dislocationJoint hypermobilityFailure to thriveAbnormal heart morphologyAbnormal cardiac septum morphologyCoarctation of aortaVentriculomegalyCerebral cortical atrophyScoliosisRecurrent infectionsShort statureAbnormal dental morphologyFloppy infantPremature thelarcheFeeding difficultiesMarcus Gunn jaw winking synkinesisAbsent pubertal growth spurtCleft lipCryptorchidismHypospadiasUreteropelvic junction obstructionDuplicated collecting systemHydronephrosisPreauricular skin tagMicrocorneaColobomaBlue scleraeNystagmusAutistic behaviorCongenital diaphragmatic herniaPrecocious pubertyHypertrichosisBrachydactylySeizureObesityAtrial septal defectGastroesophageal refluxAbnormality of the outer earMacrotiaProtruding earLong eyelashesIntellectual disabilityShort columellaHighly arched eyebrowHemivertebraeAbnormal form of the vertebral bodiesButterfly vertebraeSparse lateral eyebrowShort middle phalanx of fingerAbnormal dermatoglyphicsEversion of lateral third of lower eyelidsVertebral cleftingPostnatal growth retardationShort 5th fingerNeurodevelopmental delayAbnormality of the urinary systemAbnormality of the dentitionCleft palateOrofacial cleftHigh palateHydrocephalusMicrocephalyChronic otitis mediaConductive hearing impairmentEEG abnormalityDecreased circulating IgA concentrationHip dislocationClinodactyly of the 5th fingerCrossed fused renal ectopiaRenal hypoplasia/aplasiaHypoplasia of penisLagophthalmosReduced circulating growth hormone concentrationLip pitAbnormal localization of kidneySmall handMicrophthalmiaOptic nerve hypoplasiaHyperinsulinemic hypoglycemiaAnorectal anomalyPilomatrixomaSensorineural hearing impairmentDepressed nasal tipStrabismus
Classification & Codes
MeSH Code
C537705Orphanet Code
ORPHA:2322Kabuki syndrome
| MeSH | C537705 |
| Orphanet | ORPHA:2322 |
| Treatments | 0 drug(s) |
| Symptoms on record | 92 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO