Knowledge and Management Practices of Pediatric Orthopedic Surgeons Regarding Progressive Pseudorheumatoid Dysplasia: A Cross-Sectional Study

Background: Progressive pseudorheumatoid dysplasia (PPD) is a rare genetic skeletal disorder that is frequently missed or misdiagnosed due to overlapping features with juvenile idiopathic arthritis. This study aimed to assess the knowledge, diagnostic capabilities, and management practices of Saudi pediatric orthopedic surgeons in identifying and treating PPD. Materials and Methods: A cross-sectional survey was distributed to 120 pediatric orthopedic surgeons in Saudi Arabia, with 54 responses collected (response rate: 45%). The survey covered demographics, awareness, diagnostic knowledge, and clinical management of PPD. Descriptive statistics were used to summarize the data, and chi-square tests assessed associations between experience and confidence in managing PPD. Results: Only 31.5% of participants were aware of PPD, and 24.1% correctly identified WISP3 as the causative gene. Confidence in managing PPD was low, with only 7.4% of participants feeling very confident in long-term care. A large proportion of respondents (55.6%) were unsure about the pattern of joint involvement. While 51.9% of participants endorsed a multidisciplinary approach to management, misconceptions about laboratory and radiographic findings were common. The chi-square test showed no significant association between years of experience and confidence in managing PPD ( P = 0.21). Conclusion: This study highlights a considerable gap in knowledge and confidence among pediatric orthopedic surgeons in diagnosing and managing PPD. Implementing enhanced training programs, targeted educational initiatives, and multidisciplinary clinical guidelines is essential to improving awareness and patient outcomes. Integrating rare disease education into orthopedic residency programs could facilitate earlier diagnosis and appropriate management approaches.