Kabuki make-up (Niikawa-Kuroki) syndrome: cognitive abilities and autistic features.

TitleKabuki make-up (Niikawa-Kuroki) syndrome: cognitive abilities and autistic features.
Publication TypeJournal Article
Year of Publication1997
AuthorsHo HH, Eaves LC
JournalDevelopmental medicine and child neurology
Date Published1997 Jul

Kabuki make-up syndrome (KMS), also known as Niikawa-Kuroki syndrome, is a rare malformation complex characterized by a peculiar faciesi with long palpebral fissuresi 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.

Alternate JournalDev Med Child Neurol
Citation Key9285441