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《86个罕见病病种诊疗指南(2025年版)》
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国家卫健委公布《86个罕见病病种诊疗指南(2025年版)》
news flash· 2025-07-10 13:51
Core Viewpoint - The National Health Commission has organized the development of diagnostic and treatment guidelines for 86 diseases, including achondroplasia, as part of the second batch of rare disease catalog [1] Group 1: Disease Overview - Achondroplasia (ACH) is a hereditary condition that results in disproportionate short stature [1] - Typical clinical manifestations include proximal shortening of long bones, macrocephaly, trident hands, and distinctive facial features such as frontal prominence, midface hypoplasia, and flattened nasal bridge [1] - Clinical diagnosis primarily relies on the presentation of the disease and imaging characteristics [1]