The genes responsible for a subset of IBMFS have been identified and will be reviewed.

Gene discovery in IBMFS has been difficult in large part due to the phenotypic heterogeneity of these syndromes.

Accurate diagnosis of IBMFS inform patient care as it allows appropriate screening of siblings to avoid choosing an affected donor if marrow transplant is indicated and the selection of an appropriate transplant conditioning regiment to avoid undue toxicity.

Additionally, accurate diagnosis allows appropriate medical monitoring and early intervention to successfully treat disease-specific non-hematologic medical complications.

The most common complications are iron overload in transfused patients and syndrome-specific malignancies in untransplanted patients,

The 4 most frequent syndromes are Fanconi anemia, dyskeratosis congenita, Diamond Blackfan anemia, and Shwachman Diamond syndrome.