OBJECTIVES: Public awareness of rare diseases and access to orphan drugs is increasing in China. The purpose of this study was to review the epidemics of rare diseases, the access to orphan drug treatments, and its related legislation in China.   METHODS: A systematic literature review was performed based on published articles, government Websites, and some Internet search engines.  The rare diseases, available orphan drug treatments, and related legislations in China were reviewed.  Some comparisons related to these topics were discussed between China and developed countries like the U.S.   RESULTS: With conservative estimation, there are at least 10 million Chinese people living with rare diseases. The frequently mentioned rare diseases in China include osteogenesis imperfecta, neuromuscular diseases, Fabry disease, Gaucher disease, phenylketonurias, haemophilia A and B, lymphangioleiomyomatosis, albinism, and acromegaly. Patients with rare diseases in China generally lack the access to appropriate health care especially the orphan drug therapies. While we observed the significant impact of Orphan Drug Act on new drug developments and rare disease treatments in developed countries, there is little new orphan drug designated or developed in China. There are very few imported orphan drugs in the Chinese market. A grouping number of Chinese rare-disease organisations such as the China Albinism Association and the China-Dolls Care and Support Association are working with government on a new legislation about health care assesses and insurance policy for rare diseases. CONCLUSIONS: Public and governmental concerns about rare diseases have been boosted in China.  Their available treatments and legislation in China are lagging far behind the United States, the European Union, Australia, Singapore, Japan, and South Korea.  An effective public health insurance and public policy are needed for rare disease treatments and orphan drug developments.