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General: Etiology unknown; originally termed Kabuki make 424i85e up syndrome because dysmorphic facies resembled the stylized makeup worn by Kabuki actors; also seen in ethnic groups other than Japanese.

Ocular: Ectropion of lower eyelid; long palpebral fissures; sparse lateral half of eyebrows; highly arched eyebrows.

Clinical: Prominent ears; cleft or highly arched palates; brachydactyly; dermatoglyphics; padlike swelling of fingertips; short stature; mental retardation; susceptibility to infection; characteristic facies; developmental delay; mental and growth retardation with specific craniofacial malformations including a depressed nasal tip; musculoskeletal abnormalities, evolving phenotype over time suggesting an underlying defect of the connective tissue.

Kaiser-Kupfer MI, et al. The Niikawa-Kuroki (Kabuki make-up) syndrome in an American black. Am J Ophthalmol 1986; 102:667-668.

Kuroki Y, et al. A new malformation syndrome of long palpebral fissure, large ears, depressed nasal tip and skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pediatr 1981; 99:570.

Niikawa N, et al. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears and postnatal growth deficiency. J Pediatr 1981; 99:565.

Shiekh TM, et al. Niikawa-Kuroki syndrome. Pediatr Res 1986; 20:340a.