Abstract: Rare diseases refer to a group of diseases having very low incident rates in the population without unified definition up till now. Approximately 50% to 75% of rare diseases occur at birth or in childhood, incurring huge psychological and economic burden to families and society. With the rapid development of diagnostic technology and the continuous progress in treatment and the introduction of relevant policies, China has made great progress in the prevention and treatment of rare diseases. This article summarizes the latest progress in the diagnosis, clinical management, and research of pediatric rare diseases; and explores the prospects in the future.