Zebras in Plain Sight: Rare Disease Knowledge and Awareness Among Pediatric and Family Medicine Resident Physicians

Purpose: Limited physician knowledge of rare diseases is a well-established contributor to diagnostic delay. This crosssectional study aimed to assess and compare rare disease knowledge and healthcare infrastructure awareness among pediatric and family medicine resident physicians in Türkiye, and to identify specialty-specific educational deficiencies in postgraduate training.Methods: A total of 149 resident physicians (64 pediatric, 85 family medicine) completed a structured, self-administered questionnaire adapted from a validated, internationally employed instrument. Knowledge performance was quantified using precision, recall, and the F1 score as the primary composite metric. Participants were dichotomized into adequate and inadequate knowledge groups based on the sample median F1 score.Results: The mean F1 score was 0.66 ± 0.21, with 51.7% of participants classified as having adequate knowledge. Contrary to the a priori hypothesis, family medicine resident physicians outperformed their pediatric counterparts (60.0% vs. 40.6%; p = 0.019). Mean precision was relatively high (85.03%), whereas mean recall was markedly lower (57.79%). Notably, resident physicians in institutions without a genetics unit and/or a metabolism unit demonstrated higher knowledge levels, a finding that may reflect increased self-directed learning in the absence of specialist support (p = 0.036). Healthcare infrastructure awareness was critically low: Orphanet was recognized by only 18.8% of participants, and only 18.1% were aware that a mere fraction of rare diseases are amenable to pharmacological treatment.Conclusion: Rare disease knowledge and infrastructure awareness are inadequate among pediatric and family medicine resident physicians, irrespective of training year or clinical exposure. Structured curricular content emerges as the primary determinant of recognition performance. Mandatory integration of standardized rare disease education into residency programs constitutes a necessary and actionable step toward reducing diagnostic delay.