Abstract: Objective　To summarize the clinical features and genetic diagnosis of Kabuki syndrome. Methods　The clinical data of Kabuki syndrome in 2 children were retrospectively analyzed. Results　Both of them were male and over 1 year old. They had special facial features and febrile convulsion. Gene detection indicated that both of them had mutation in KMT2D (or MLL2) gene, but the clinical phenotypes were different. Conclusion　Children with clinically suspected Kabuki syndrome can be confirmed by gene detection.