Kabuki make-up (Niikawa-Kuroki) syndrome: cognitive abilities and autistic features.
Kabuki make-up syndrome (KMS), also known as Niikawa-Kuroki syndrome, is a rare malformation complex characterized by a peculiar facies with long palpebral fissures and partially everted lower eyelid, mental retardation, dwarfism, and skeletal and dermatoglyphic abnormalities. Four children from different ethnic groups presented with phenotypic manifestation of KMS. They showed variable degrees of learning disabilities, mental retardation, and autistic behavior. Two boys declined in IQ in early adolescence. In addition to being aware of the variable presentation of cognitive and behavioral characteristics in those already diagnosed, it is important to consider KMS when assessing dysmorphic children with learning disabilities and/or autism.
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University of British Columbia, Vancouver, Canada.
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D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001321:Autistic Disorder / Q000175:diagnosis / Q000209:etiology*; D002648:Child; D002675:Child, Preschool; D004392:Dwarfism; D005143:Eyelids / Q000002:abnormalities; D019066:Facies; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000209:etiology*; D007859:Learning Disabilities / Q000175:diagnosis / Q000209:etiology*; D008297:Male; D018482:Muscle, Skeletal / Q000002:abnormalities; D010641:Phenotype; D013577:Syndrome