Congenital Cytopenias and Bone Marrow Failure Syndromes

Congenital bone marrow failure syndromes (CBMFS) are extremely uncommon diseases that can present in the neonate. The objective of this article is to review the presentation, diagnosis, pathophysiology, and management of CBMFS in relation to neonatology. CBMFS should be considered when a single or multiple blood cell lineages are low secondary to failure of production. Diagnosis in the neonatal period requires a high index of suspicion. In this particular age group, CBMFS should be considered when the neonate has a family history of CBMFS, is small for gestational age, or has other physical abnormalities. History and physical examination can lead to the diagnosis. CBMFS are often associated with a predisposition to cancer later in life.