低血磷性佝偻病/骨软化症是一大类罕见的慢性代谢性骨病，给患者的生长、活动能力和生活质量均造成巨大的损害。但由于该病相对罕见，导致公众，甚至是专业医师对该病的认识和重视程度均不高，造成许多患者不能得到及时诊断和长期正规治疗。为了规范低血磷性佝偻病/骨软化症的诊断和治疗，中华医学会内分泌学分会与骨质疏松和骨矿盐疾病分会联合国内众多专家，基于循证医学证据，系统制定了中国低血磷性佝偻病/骨软化症诊疗指南，涵盖了低血磷性佝偻病/骨软化症的发病机制、诊断、治疗和管理，旨在为临床医生和相关从业者的诊疗决策提供最佳依据，以提高我国低血磷性佝偻病/骨软化症的诊疗水平。“,”Hypophosphatemic rickets/osteomalacia is a group of rare chronic metabolic bone diseases, which has detrimental impact on the growth, mobility, and life quality of the patients. Because of its rarity, the public awareness remains low, so does in general physician, which leads to delayed diagnosis and treatment. With a vision to standardize the diagnosis and treatment of hypophosphatemic rickets/osteomalacia, Chinese Society of Endocrinology and Chinese Society of Osteoporosis and Bone Mineral Research convened a national group of experts to compose this guideline based on current evidence, which covered the pathogenesis, diagnosis, treatment and management of hypophosphatemic rickets/osteomalacia. In summary, this work outlines recommendations for clinicians, aiming to improve the management of hypophosphatemic rickets/osteomalacia in China.