期刊介绍：

Orphanet Journal of Rare Diseases is an open access, peer-reviewed online journal that encompasses all aspects of rare diseases and orphan drugs. The journal welcomes high quality review articles encompassing all aspects of diagnosis, clinical description, clinical work-up and management as well as aetiopathogenesis, *epidemiology, and genetic counselling of rare diseases. It brings together knowledge of basic research and clinical practice. By providing this information, crucial for optimised diagnosis and management, the Orphanet Journal of Rare Diseases aims to contribute to the improved care of patients affected by rare diseases. The journal provides researchers and clinicians with the opportunity to publish state of the art developments in the area of rare diseases and orphan drugs as well as to publish new syndromes and results of clinical trials including those with negative results.