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Table 1 Phenotypic summary of Chinese KS patients

From: Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature

Patient1234567Literature (N = 40)Chinese cohort (N = 47)Non-Chinese cohort (N = 86) (Ref. 17)
GenderFemaleFemaleMaleFemaleMaleMaleFemale   
Age of diagnosis1.3 yrs11 Months5 Months7d7 yrs2.6 Months3.2 yrs   
Growth
 Short stature++++2357.4%57%
Neurological abnormalities
 Intellectual disability++NA+++3280.4%90%
 Seizures48.5%15%
 Cerebellar vermis dysplasia12.1% 
 Corpus callosum hypoplasia12.1% 
 Dany-Walker malformation12.1% 
 Thinning of pituitary+02.1% 
 Delay myelination of cerebral+02.1% 
 Hydrocephalus12.1% 
Craniofacial features
 Microcephaly++310.6%41%
 Micrognathia36.3%39%
 High forehead and hairline+02.1% 
 Low hairline+26.3% 
 Hypertelorism++821.2% 
 Epicanthus+819.1% 
 Long palpebral fissures+++1538.2%99%
 Strabismus12.1%37%
 Eversion of lateral third of lower eyelids++++1438.2%87%
 Long eyelashes++923.9% 
 Arched eyebrows++28.7% 
 Sparse eyebrows++1842.5% 
 Depressed nasal tip++++2970.2%80%
 Wide nasal bridge+++721.9% 
 A displastic ear+38.7% 
 Large ears+++2968.0%79%
 High-arched/cleft palate+++2457.4%66%
 Thin upper vermillion+++210.6%76%
 Abnormal dentition510.6%51%
Congenital heart defect++++++1442.6%42%
 Aortic coartation+14.3% 
 Atrial septal defect++++621.7% 
 Ventricular septal defects++++621.7% 
 Patent ductus arteriosus++16.5% 
 Patent foramen ovale+++++521.7% 
 Aortic arch dysplasia+02.2% 
Internal organ problem
 Feeding difficulties+38.5% 
 Anal atresia+38.5% 
 Bilateral inguinal hernia24.2% 
 Splenomegaly+14.2% 
 Cryptorchidism12.% 
 Hearing impairment+++1334.0%25%
 Otitis media+1227.6% 
 Cholesteatoma+26.4% 
 Cochlear dysplasia+02.1% 
 Renal/ureter malformation+++210.6%40%
Musculoskeletal features
 Hip joint dislocation++923.4%26%
 Right diaphyseal femoral fracture+02.1% 
 Fifth finger clinodactyly+2248.9%84%
 Absent palmer transverse crease+512.7% 
 Fingertip pads+2453.2%89%
Endocrine
 Hypoglycemia++28.5%7–8%
 Early breast development +14.2%28%