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Kabuki syndrome
2 OMIM references -
2 associated genes
21 connected diseases
55 signs/symptoms
Disease Type of connection
Atrial septal defect, ostium secundum type
Familial atrial fibrillation
Single ventricular septal defect
Tetralogy of Fallot
Athyreosis
Atrial septal defect - atrioventricular conduction defects
Familial isolated congenital asplenia
Familial progressive cardiac conduction defect
Holt-Oram syndrome
Hypoplastic left heart syndrome
Thyroid hypoplasia
46,XY partial gonadal dysgenesis
8p23.1 microdeletion syndrome
Coffin-Siris syndrome
Complete atrioventricular canal - Fallot tetralogy
Complete atrioventricular canal - left heart obstruction
Complete atrioventricular canal - ventricle hypoplasia
Distal myopathy with vocal cord weakness
Familial rhabdoid tumor
Heritable pulmonary arterial hypertension
Partial atrioventricular canal
Synonym(s):
- Kabuki make-up syndrome
- Niikawa-Kuroki syndrome

Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
- Rare surgical thoracic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
1 MeSH reference: C537705

Gene symbol UniProt reference OMIM reference
KDM6A O15550300128
KMT2D O14686602113
Very frequent
- Abnormal dermatoglyphics
- Abnormal vertebral size / shape
- Autosomal dominant inheritance
- Ectropion / entropion / eyelid eversion
- High arched eyebrows
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Lateral thinning of eyebrows
- Long / large ear
- Long / thick / curved lashes / trichomegaly / polytrichia
- Prominent / bat ears
- Short columella / depressed nasal tip
- Short hand / brachydactyly

Frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Anodontia / oligodontia / hypodontia
- Blue sclerae
- Cardiac septal defect
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Complete / partial microdontia
- Conductive deafness / hearing loss
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Dilated cerebral ventricles without hydrocephaly
- Failure to thrive / difficulties for feeding in infancy / growth delay
- High vaulted / narrow palate
- Hydrocephaly
- Hyperextensible joints / articular hyperlaxity
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Hypotonia
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Lateral cleft lip / gingival cleft / paramedian nasal cleft
- Microcephaly
- Ptosis
- Scoliosis
- Sensorineural deafness / hearing loss
- Short stature / dwarfism / nanism
- Strabismus / squint
- Tooth shape anomaly

Occasional
- Agenesis / hypoplasia / aplasia of kidneys
- Diaphragmatic hernia / defect / agenesis
- Ectopic / horseshoe / fused kidneys
- EEG anomalies
- Expressionless face / amimia
- Generalized obesity
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hypospadias / epispadias / bent penis
- Lip pits / fistulae
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Microcornea
- Micropenis / small penis / agenesis
- Nystagmus
- Preauricular / branchial tags / appendages
- Precocious puberty
- Retinoschisis / retinal / chorioretinal coloboma
- Seizures / epilepsy / absences / spasms / status epilepticus
- Small hand / acromicria
- Undescended / ectopic testes / cryptorchidia / unfixed testes