Kabuki syndrome is a rare congenital disorder with characteristic facial appearance (long palpebral fissures, long and dense eyelashes and arched eyebrows, short nasal columella with a depressed nasal tip, prominent ears and a mouth with a thin upper lip and a full lower lip), poor postnatal growth, short stature, variable congenital malformations (cleft palate and cardiovascular defects), learning disabilities, seizures, neonatal hyperinsulinaemic hypoglycaemia, hypothyroidism, and immune dysfunction.
Autosomal dominant Kabuki syndrome as a result of heterozygous disease-causing variants in KMT2D account for ~56-75% of cases. Disease-causing variants in KDM6A result in an X-linked dominant form of Kabuki and account for ~3-8% of cases.