Four cases of Kabuki make-up syndrome (KMS) from various ethnic groups in Vancouver, British Columbia, are reported from the Sunny Hill Health Centre for Children, Vancouver. Three were diagnosed late, at 7 years or older. The cardinal manifestations are: 1) dysmorphic facies - long palpebral fissures, large ears, arched eyebrows, outer one third of the lower eyelid turned outward, similar to make-up of Kabuki actors in Japanese theatre; 2) brachydactyly of 5th finger; 3) increased digital ulnar loops; 4) mental retardation; 5) short stature. All 4 patients presented early with delayed speech, all had autistic-like behavior, and 2 had repetitive stereotyped behavior. All showed variable degrees of learning disabilities and/or retardation, and 2 had declines in IQ in adolescence. [1]

COMMENT. The diagnosis of Kabuki make-up syndrome should be considered in dysmorphic children with microcephaly and presenting with learning disabilities and/or autism. Although the majority of cases are Asian from Japan, KMS occurs in other Asians, Europeans, South American, Arab, Indian, and Chinese. The condition may be overlooked in Asians outside Japan, since the long palpebral fissures and short stature can be accepted as normal.