On July 10, 2025, the National Health Commission (NHC) released clinical guidelines for 86 rare diseases, including achondroplasia, covering all the 86 conditions in China's second catalog of rare diseases. PUMCH, commissioned by NHC, led the development effort in partnership with the China Alliance for Rare Diseases. PUMCH experts in a wide range of specialties conducted multiple rounds of review. This marks a significant advancement in China's rare disease care since the first clinical guidelines were published in 2019, giving healthcare providers nationwide authoritative, evidence-based clinical guidance.

In September 2023, NHC released the second catalog of rare diseases, adding 86 new conditions. Subsequently, commissioned by NHC, PUMCH partnered with the China Alliance for Rare Diseases to lead a national team of top medical experts in developing these guidelines. After 22 months of painstaking efforts, the guidelines for all 86 conditions have been completed and published.

The guidelines represent the collective expertise and intensive efforts of over 130 rare disease specialists from 34 hospitals nationwide. Multiple expert teams, including those from the Society of Rare Diseases, Chinese Medical Association and PUMCH, conducted extensive reviews to ensure scientific rigor and practical applicability. Additionally, 87 senior medical experts from 39 hospitals participated in the review process, while the National Health Commission solicited input from sub-national health commissions and medical institutions across the country, establishing the guidelines as scientifically sound and authoritative.

The guidelines elaborate on the clinical manifestations, diagnostic criteria, treatment protocols, and prognostic management of the 86 rare diseases, offering physicians at all levels highly instructive clinical standards. They are expected to reduce misdiagnosis and missed diagnosis, improve treatment outcomes, and enhance quality of life for rare disease patients.

In recent years, the Communist Party of China and the Chinese government have prioritized rare disease prevention and treatment, building a comprehensive diagnostic and treatment system through coordinated efforts in catalog development, clinical capacity building, and drug accessibility. China has now published two catalogs of rare diseases that cover 207 conditions and continues expanding access to quality medical resources through the National Rare Disease Diagnosis and Treatment Collaborative Network. In 2019, PUMCH, as the sole national lead institution of this network, was commissioned by NHC to develop China's first rare disease guidelines covering 121 diseases in the first catalog—a pioneering effort that significantly enhanced clinical understanding and standardized care capabilities.

These new guidelines will elevate China's rare disease care standardization to higher levels, benefiting more patients with precision, standardized, scientific, and efficient clinical services.

Written by Chen Jingdan and Chen Xiao

Edited by Chen Xiao and Gan Dingzhu

Chief Editor Duan Wenli

Supervised by Wu Peixin