From: Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature
Patient | 1 | 2 | 3 | 4 | 5 | 6 | 7 | Literature (N = 40) | Chinese cohort (N = 47) | Non-Chinese cohort (N = 86) (Ref. 17) |
---|---|---|---|---|---|---|---|---|---|---|
Gender | Female | Female | Male | Female | Male | Male | Female | |||
Age of diagnosis | 1.3 yrs | 11 Months | 5 Months | 7d | 7 yrs | 2.6 Months | 3.2 yrs | |||
Growth | ||||||||||
Short stature | + | – | – | – | + | + | + | 23 | 57.4% | 57% |
Neurological abnormalities | ||||||||||
Intellectual disability | + | – | + | NA | + | + | + | 32 | 80.4% | 90% |
Seizures | – | – | – | – | – | – | – | 4 | 8.5% | 15% |
Cerebellar vermis dysplasia | – | – | – | – | – | – | – | 1 | 2.1% | |
Corpus callosum hypoplasia | – | – | – | – | – | – | – | 1 | 2.1% | |
Dany-Walker malformation | – | – | – | – | – | – | – | 1 | 2.1% | |
Thinning of pituitary | – | – | – | – | + | – | – | 0 | 2.1% | |
Delay myelination of cerebral | – | – | + | – | – | – | – | 0 | 2.1% | |
Hydrocephalus | – | – | – | – | – | – | – | 1 | 2.1% | |
Craniofacial features | ||||||||||
Microcephaly | – | + | + | – | – | – | – | 3 | 10.6% | 41% |
Micrognathia | – | – | – | – | – | – | – | 3 | 6.3% | 39% |
High forehead and hairline | + | – | – | – | – | – | – | 0 | 2.1% | |
Low hairline | + | – | – | – | – | – | – | 2 | 6.3% | |
Hypertelorism | – | – | + | – | – | + | – | 8 | 21.2% | |
Epicanthus | – | – | – | – | + | – | – | 8 | 19.1% | |
Long palpebral fissures | – | + | + | – | – | – | + | 15 | 38.2% | 99% |
Strabismus | – | – | – | – | – | – | – | 1 | 2.1% | 37% |
Eversion of lateral third of lower eyelids | + | – | + | – | + | – | + | 14 | 38.2% | 87% |
Long eyelashes | + | – | – | – | – | – | + | 9 | 23.9% | |
Arched eyebrows | + | – | – | – | – | + | – | 2 | 8.7% | |
Sparse eyebrows | – | – | – | – | + | + | – | 18 | 42.5% | |
Depressed nasal tip | + | + | – | – | – | + | + | 29 | 70.2% | 80% |
Wide nasal bridge | + | + | – | – | – | + | – | 7 | 21.9% | |
A displastic ear | – | + | – | – | – | – | – | 3 | 8.7% | |
Large ears | – | + | – | – | + | + | – | 29 | 68.0% | 79% |
High-arched/cleft palate | – | + | + | – | – | – | + | 24 | 57.4% | 66% |
Thin upper vermillion | + | – | – | – | + | – | + | 2 | 10.6% | 76% |
Abnormal dentition | – | – | – | – | – | – | – | 5 | 10.6% | 51% |
Congenital heart defect | + | + | + | + | – | + | + | 14 | 42.6% | 42% |
Aortic coartation | – | + | – | – | – | – | – | 1 | 4.3% | |
Atrial septal defect | + | – | + | + | – | + | – | 6 | 21.7% | |
Ventricular septal defects | + | – | + | + | – | – | + | 6 | 21.7% | |
Patent ductus arteriosus | – | – | – | + | – | + | – | 1 | 6.5% | |
Patent foramen ovale | + | + | + | + | – | – | + | 5 | 21.7% | |
Aortic arch dysplasia | – | – | – | + | – | – | – | 0 | 2.2% | |
Internal organ problem | ||||||||||
Feeding difficulties | + | – | – | – | – | – | – | 3 | 8.5% | |
Anal atresia | – | – | – | – | – | + | – | 3 | 8.5% | |
Bilateral inguinal hernia | – | – | – | – | – | – | – | 2 | 4.2% | |
Splenomegaly | – | – | – | – | – | + | – | 1 | 4.2% | |
Cryptorchidism | – | – | – | – | – | – | – | 1 | 2.% | |
Hearing impairment | – | + | + | – | – | + | – | 13 | 34.0% | 25% |
Otitis media | – | – | – | – | – | + | – | 12 | 27.6% | |
Cholesteatoma | – | – | – | – | + | – | – | 2 | 6.4% | |
Cochlear dysplasia | – | – | – | – | – | + | – | 0 | 2.1% | |
Renal/ureter malformation | – | – | – | + | + | + | – | 2 | 10.6% | 40% |
Musculoskeletal features | ||||||||||
Hip joint dislocation | – | – | – | – | + | – | + | 9 | 23.4% | 26% |
Right diaphyseal femoral fracture | – | – | – | – | – | – | + | 0 | 2.1% | |
Fifth finger clinodactyly | + | – | – | – | – | – | – | 22 | 48.9% | 84% |
Absent palmer transverse crease | – | – | + | – | – | – | – | 5 | 12.7% | |
Fingertip pads | + | – | – | – | – | – | – | 24 | 53.2% | 89% |
Endocrine | ||||||||||
Hypoglycemia | – | + | + | – | – | – | – | 2 | 8.5% | 7–8% |
Early breast development | – | – | – | – | – | + | 1 | 4.2% | 28% |