A brief overview of problem relevance of rare (orfan) diseases in pediatrics and experience of Department of Pediatrics No. 1 of Irkutsk State Medical University on implementation of academic discipline of choice “Orfan diseases” into an academic process of the specialty 31.05.02 “Pediatrics”, relating to the variable part of block 1 «Disciplines (modules)».

Summary: A case of Shwachman–Diamond syndrome with typicl symptoms of this disease (bone, intestinal, hematological) diagnosed in at an early age is described. Authors believe that the mainstreaming of discipline on orphan diseases with interdisciplinary diagnostic and medical approaches in training programs including post-graduate training is a compelling need to train a modern professional in the field of pediatrics.