title: The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients.
abstract: The Kabuki (Niikawa-Kuroki) syndrome was reported in 1981 by Niikawa et al. and Kuroki et al. 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 face, mild to moderate mental retardation, postnatal growth retardation, dermatoglyphic and skeletal abnormalities. In Japan, the syndrome appears to have an incidence of about 1:32,000 newborns. Outside of Japan, a growing number of patients have been recognized. Clinical data are presented on 29 Caucasian patients; the patients were diagnosed over a relatively short period of time, indicating that the incidence outside 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 the non-Japanese patients serious neurological problems were present, most notably hypotonia and feeding problems (which were not only related to the cleft palate); this was not reported in the Japanese patients. Inheritance is not clear. Most patients are isolated, sex-ratio is equal. The syndrome can be recognized in patients with cleft (lip/)palate, with mild to moderate developmental delay and in young children with hypotonia and/or feeding problems. In counselling parents, the designation "Kabuki" syndrome seems to be more appropriate than "Kabuki make-up" syndrome.
authors.affiliation: Abteilung für Medizinische Genetik, Altonaer Kinderkrankenhaus, Hamburg, Germany.
authors.forename: C
authors.initials: C
authors.lastname: Schrander-Stumpel
authors.forename: P
authors.initials: P
authors.lastname: Meinecke
authors.forename: G
authors.initials: G
authors.lastname: Wilson
authors.forename: G
authors.initials: G
authors.lastname: Gillessen-Kaesbach
authors.forename: S
authors.initials: S
authors.lastname: Tinschert
authors.forename: R
authors.initials: R
authors.lastname: König
authors.forename: N
authors.initials: N
authors.lastname: Philip
authors.forename: R
authors.initials: R
authors.lastname: Rizzo
authors.forename: J
authors.initials: J
authors.lastname: Schrander
authors.forename: L
authors.initials: L
authors.lastname: Pfeiffer
mesh_terms: D000015:Abnormalities, Multiple / Q000208:ethnology / Q000235:genetics; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003878:Dermatoglyphics; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000208:ethnology / Q000235:genetics; D007564:Japan; D008297:Male; D010641:Phenotype; D013577:Syndrome