Variable expressivity in a family with Kabuki make-up (Niikawa-Kuroki) syndrome.

Kabuki make-up syndrome (KS), also called Niikawa-Kuroki syndrome, is a rare congenital disorder of unknown etiology. Most KS cases occur sporadically and familial KS had never been reported in Taiwan. I describe four individuals in one family with KS. Significant intrafamilial variability in the clinical expression of this syndrome is evident. In addition to the typical craniofacial dysmorphism and cleft palate and/or cleft lip that the three children inherited from their father, rare anomalies such as lower lip pits and growth hormone deficiency in one girl and right-sided acrotia in one boy were noted. High-resolution banding did not detect any chromosomal structural anomalies. These findings further suggested the autosomal inheritance (from the father to two sons and one daughter) in KS and highlighted the overlapping phenotype with van der Woude syndrome.