Abstract: Metaphyseal dysplasia is a group of rare genetic skeletal dysplasia，which is characterized by abnromal metaphyseal morphology，with or without other skeletal malformations and associated abnormalities. According to the latest classification of genetic bone diseases，ten types of epiphyseal changes are classified as metaphyseal dysplasia. These diseases have big phenotypic heterogeneity and overlap with the phenotypes of a variety of genetic bone diseases. Clinically，it needs to be diagnosed based on typical imaging features，clinical phenotypes and  genetic detection. At present， there is no specific treatment for this kind of disease. Targeted therapeutic drugs based on pathogenesis-related signaling pathways are being studied. The effectiveness and safety of growth hormone for the improvement of patients' height still need to be further studied.

Key words: metaphyseal, dysplasia, genetic bone disease, diagnosis, treatment

摘要： 干骺端发育不良是一组罕见遗传性骨骼发育不良，其特征是干骺端形态不规则，伴或不伴有其他骨骼畸形，骨外系统表现。根据最新的遗传性骨病分类，将具有长骨干骺端改变的10种疾病归类为干骺端发育不良。此类疾病表型异质性大，与多种遗传性骨病的表型重叠，应在典型影像学特征的基础上，结合临床表型、分子遗传学检测以确诊。本病目前尚无特效的治疗药物，针对发病机制相关信号通路的靶向治疗药物正在研究中，生长激素对于改善患者身高的有效性和安全性仍有待进一步研究。

关键词: 干骺端, 发育不良, 遗传性骨病, 诊断, 治疗