Kabuki syndrome is a characteristic combination of small physical features, malformations and a developmental disorder; failure to thrive is often also seen in infancy and toddlerhood. The characteristic craniofacial features are: laterally elongated eyelid crevices with eversion of the lateral lower lid; arched, laterally sparse eyebrows, often with a hairless narrow area in the middle; a short columella and a flat-looking tip of the nose; poorly shaped, large earlobes; fetal fingertip pads on the hands; brachydactyly V; and occasionally cleft palate or lip-jaw-palate cleft. Initially, muscular hypotonia, extreme failure to thrive that requires tube feeding, and a heart defect may be at the forefront, later a moderate developmental delay, increased otitis media and infections are seen, as well as seizures in some patients.
Kabuki syndrome is caused by heterozygous pathogenic variants in the KMT2D gene in about 60% of cases, and rarely by pathogenic changes in KDM6A on the X chromosome. In some cases no cause has been found, so that genetic heterogeneity is suspected.
Adam et al. 2019 J Med Genet 56:89 / Micale et al. 2011, Orphanet J Rare Dis 6:38 / Miyake et al. 2013, Am J Med Genet A 161A:2234 / Adam et al. 2011, GeneReviews „Kabuki syndrome“