To analyze the clinical prevalence distribution characteristics of patients with rare diseases.

The medical records of 1 820 cases of Rare disease hospitalized in our hospital from 2019 to 2021 were selected for descriptive epidemiological research.

The 1 820 rare disease inpatients accounted for 0.51% of the total 360 348 inpatients admitted to our hospital during the same period. Among 1 820 patients with rare diseases, 1 136 were males and 684 were females. The sex ratio of hospitalized patients with rare diseases was 1.41︰1; The distribution of cases in different age groups was as follows: young adults > middle-aged and elderly > adolescents > children; Ten of the 21 disease system classifications were involved, among which the largest number of patients with neurological diseases was 1 149 (63.13%); a total of 1 202 cases (66.04%) were covered by the 10 types of rare cases, in the following order: homocysteinemia, 598 (49.75%); optic neuromyelitis optica, 139 (11.56%); autoimmune encephalitis, 117 (9.73%); and multiple system atrophy, 84 cases (9.73%), multiple system atrophy in 84 cases (6.99%), Castleman′s disease in 79 cases (6.57%), dark spot polyp syndrome in 44 cases (3.66%), ventricular myocardial densification insufficiency in 43 cases (3.58%), spinal cerebellar ataxia in 38 cases (3.16%), systemic sclerosis in 31 cases (2.58%), and Marfan syndrome in 29 cases (2.41%); Follow-up and prognostic results, overall follow-up of rare diseases was 1 405 cases (77.20%), of which 524 cases (87.63%) were followed up for homocysteinemia, with an effective rate of 475 cases (90.64%).

Rare diseases are characterized by a wide age range of prevalence, diverse types of disease, and wide variation in efficacy and prognosis.