A new classification of myelodysplastic and myeloproliferative diseases in childhood has greatly facilitated the diagnosis of these uncommon disorders. Because hematopoietic stem cell transplantation (HSCT) can cure more than half of the affected children, palliative treatment strategies often applied in adult myelodysplastic syndrome (MDS) are of little importance in pediatric MDS. Unraveling some of the underlying genetic factors predisposing to MDS at a young age may give important insights into leukemogenesis in the elderly.