Speaking at a conference on rare diseases in Beijing, Ding Jie, vice director of the Peking University First Hospital, said many patients fail to get a correct diagnosis because of doctors' limited medical knowledge about rare diseases.
Most of such diseases are genetic and therefore difficult to confirm, Xinhua quoted Ding as saying.
It was also difficult for diagnosed patients to receive timely treatment due to shortage of effective drugs, most of which are imported from other countries.
The drugs usually take a long time to receive approval and get to the market, Ding said.
Some patients give up treatment even though imported medicine is available, because of their high cost.
According to the World Health Organisation, a rare disease is one that affects a small percentage of the population, ranging from 0.65 in 1,000 to 1 in 1,000. More than 6,000 rare diseases have been confirmed so far.