Abstract: Objective　To explore the early diagnosis of progressive pseudorheumatoid dysplasia (PPRD). Method　The clinical data and gene detection results of PPRD in 5 children were reviewed. Results　In 5 children (1 boy, 4 girls), the age at onset was 3~5 years and at the time of diagnosis was 8~12 years. All of them suffered from interphalangeal joint enlargement. One had gait abnormality and 4 had claudication. All patients had joint pain and limited activity during the course of the disease. However, the inflammatory markers were all normal in 5 patients. The X-ray examination showed the metaphysis of the finger joint was swollen and the bone density was reduced. The anterior segment of the spine became flattened and the part of the intervertebral space was narrowed. In one case, the vertebral body presented a warhead-like change. All of the five cases had WISP3 gene mutation. One case had homozygous mutation of c.397_404del CAAGTGTT, 2 cases had complex heterozygous mutations (NM_19829.1:c.700T>C, p.Trp234Arg from mother; NM_19829.1:c.1054T>C, p.Ser352Pro from father), and another 2 cases had complex heterozygosity mutations (c.589+2T>C from mother, c.667T>G; p.Cys223Gly from father). Except for c.667T>G and c.589+2T>C, the remaining 3 were unreported new mutations. Conclusion　The clinical features of PPRD are non-inflammatory expansion of multiple joints and dyskinesia. The radiological features included enlargement of articular epiphysis, abnormal development and progressive platyspondyly. Based on clinical characteristics and typical changes of radiology, combined with WISP3 gene detection, definite diagnosis can be made. The study also identified 3 new mutations in the WISP3 gene.