Kabuki make-up syndrome and report of a case with hydrocephalus.

We report a 22-year-old man with hydrocephalusⁱ caused by aqueductal stenosisⁱ. The patient was diagnosed with Kabuki make-up syndrome based on associated findings such as a peculiar faciesⁱ, postnatal growth deficiency, brachydactylyⁱ of the fifth fingers, undescended testes, and malrotation of the colon. Kabuki make-up syndrome, recognized in Japan in 1981, is characterized by five cardinalⁱ manifestations: a peculiar facies, skeletal anomalies, dermatoglyphic anomalies, slight to moderate mental retardation, and postnatal dwarfism. Neurological anomalies have been reported to include neonatal hypotonia, feeding problems, seizures, West syndromeⁱ, microcephalyⁱ, brain atrophyⁱ, GH deficiency, precocious pubertyⁱ, delayed sexual development, and diabetes insipidusⁱ. Aqueductal stenosis may be caused by part of the series of midline anomalies. Physicians should pay attention to associated anomalous characteristics suggesting a malformation syndrome when they encounter nontumoral aqueductal stenosis in adolescents or adults.