Objective　To explore the clinical characteristics of Cantu syndrome. Method　The clinical data and molecular genetic test results of Cantu syndrome in a child were retrospectively analyzed, and pertinent literature was reviewed. Results　A 6-month-old boy visited for hypertrichosis and psychomotor retardation. The patient presented a distinctive facial appearance such as thick scalp hair, low frontal hairline, excessive growth of body hair on the extremities and back, a flat nasal bridge, hypertelorism, epicanthic folds, thick lips and hypertrophic tongue. The patient also had developmental retardation. The heterozygous mutation of c.4040G > T (guanine> thymine) in exon 33 of ABCC9 gene was found by gene detection, which resulted in the amino acid change of p.Arg1347Leu (arginine> leucine), and the child was diagnosed with Cantu syndrome. Conclusion　Cantu syndrome is characterized by congenital hypertrichosis, distinctive facial features and psychomotor retardation, and genetic detection is helpful for early diagnosis.