Core Viewpoint - The National Health Commission of China has released the "Guidelines for the Diagnosis and Treatment of 86 Rare Diseases (2025 Edition)" to enhance the standardization of rare disease treatment and ensure medical quality and safety [1][2]. Group 1: Rare Disease Guidelines - The guidelines provide clear instructions on clinical manifestations, diagnostic methods, and medical interventions for the 86 rare diseases included in the second batch of the rare disease directory [1][2]. - The guidelines reflect the era's demand for comprehensive health care throughout an individual's life cycle, emphasizing the importance of early screening and treatment for rare diseases [1]. Group 2: Specific Rare Diseases - Achondroplasia (ACH) is highlighted as a genetic disorder leading to disproportionate short stature, with typical clinical features including shortened proximal long bones, macrocephaly, and distinctive facial characteristics [2]. - Currently, there is only one approved treatment for ACH abroad, while no specific drug has been approved in China, and treatment mainly focuses on symptom management and complications [2]. Group 3: Government Initiatives and Statistics - The Chinese government has shown increasing attention to rare diseases, with the first batch of rare disease directory published in 2018, which included 121 diseases and corresponding treatment guidelines [2]. - Approximately 20 million people in China are affected by rare diseases, with over 200,000 new patients each year [2]. - As of January 1, 2025, the new national medical insurance drug list will include 13 new medications for rare diseases, significantly reducing the financial burden on patients [2].