目的 利用医院儿童罕见病数据库，挖掘和评估不同罕见病患儿的临床特征，为推动临床罕见病患儿的预防和诊疗提供依据。方法 通过对医院罕见病数据库（一期）中的患儿的数据进行分析，时间范围为2011年5月16日至2023年1月29日。采用《国际疾病分类》（ICD-10）对挖掘到的病例数、性别、地域、年龄、基因检查、重复门诊和住院情况进行分类和统计。结果 数据库共纳入3 491例患儿，涵盖了20种罕见病，占罕见病目录的9.7%（20/207）。男性患者和女性患者的比例为1.30∶1（1 975男性/1 516女性）。其中，甲基丙二酸血症（1 024例，占29.33%）、先天性肾上腺皮质增生症（944例，占27.04%）和苯丙酮尿症（191例，占5.47%）是排名前三的罕见病。基因检测数据纳入220份，占疾病总数量的6.30%。住院病例涵盖了16个省份，其中河南省的病例占比96.60%（1988/2058）。婴儿期罕见病占总病例数的42.36%（1479/3491）。多发性骨纤维发育不良伴性早熟综合征是重复住院罕见病中占比最高的，为24.24%（8/33），而卡尔曼综合征患儿的重复门诊率最高，为51.85%（14/27）。结论 专病数据库20种儿童罕见病的患儿临床特征总结，为推动儿童罕见病的防控、检测和研究提供了参考依据。

Objective The purpose of this study is to explore and evaluate the clinical characteristics of children with different rare diseases by using the database of children's rare diseases in our hospital, so as to provide a basis for promoting the prevention, diagnosis and treatment of children with rare diseases. Methods The data of children in our rare disease database (Phase I) were analysed from 16th May 2011 to 29th January 2023 by child admission. The International Classification of Diseases (ICD-10) was used to classify and count the number of cases mined, gender, geography, age, genetic tests, repeat visits and hospitalisations. Results A total of 3491 children were included in the database, covering 20 rare diseases, representing 9.7% (20/207) of the rare disease catalogue. The ratio of male to female patients was 1.30:1 (1975 males/1516 females). Methylmalonic acidemia (1024 cases, 29.33%), congenital adrenocortical hyperplasia (944 cases, 27.04%) and phenylketonuria (191 cases, 5.47%) were the top three rare diseases. Genetic testing data were included in 220 cases, accounting for 6.30% of the total number of diseases. Hospitalised cases covered 16 provinces, with Henan province accounting for 96.60% of cases (1988/2058). Rare diseases in infancy accounted for 42.36% (1479/3491) of the total number of cases. Multiple osteofibrous dysplasia with precocious puberty syndrome was the highest percentage of repeat hospitalisation for rare diseases at 24.24% (8/33), while children with Kalman syndrome had the highest rate of repeat outpatient visits at 51.85% (14/27). Conclusion Based on the database of special diseases, we analyzed the clinical characteristics of 20 rare diseases in children, which provided a reference for promoting the prevention, control, detection and research of rare diseases in children in our province.