THE KABUKI (NIIKAWA-KUROKI) SYNDROME - FURTHER DELINEATION OF THE PHENOTYPE IN 29 NON-JAPANESE PATIENTS

The Kabuki (Niikawa-Kuroki) syndrome was reported in 1981 by Niikawa e t al. [19] and Kuroki et al. [15] in a total of ten unrelated Japanese children with a characteristic array of multiple congenital anomalies and mental retardation. The syndrome is characterized by a distinct f ace, mild to moderate mental retardation, postnatal growth retardation , dermatoglyphic and skeletal abnormalities. In Japan, the syndrome ap pears to have an incidence of about 1:32 000 newborns. Outside of Japa n, a growing number of patients have been recognized. Clinical data ar e presented on 29 Caucasian patients; the patients were diagnosed over a relatively short period of time, indicating that the incidence outs ide of Japan is probably not lower than in Japan, A literature review of 89 patients (60 Japanese and 29 non-Japanese) is given. In 66% of t he non-Japanese patients serious neurological problems were present, m ost notably hypotonia and feeding problems (which were not only relate d to the cleft palate); this was not reported in the Japanese patients . Inheritance is not clear. Most patients are isolated, sex-ratio is e qual. The syndrome can be recognized in patients with cleft (lip/)pala te, with mild to moderate developmental delay and in young children wi th hypotonia and/or feeding problems. In counselling parents, the desi gnation ''Kabuki'' syndrome seems to be more appropriate than ''Kabuki make-up'' syndrome.