| Summary: | Inherited bone marrow failure syndromes are disorders of hematopoiesis that are mostly encountered in childhood. Taking the basis
from genetics, they are characterized by pancytopenia, increased risk of developing myelodysplastic syndrome and malignancy.
Extrahematopoietic presentations are observed often in addition to symptoms related to defective hematopoiesis (also known as
bone marrow failure). The biology, clinical features, and management of the main syndromes such as Fanconi anemia, dyskeratosis
congenita, Shwachman-Diamond syndrome, congenital amegakaryocytic thrombocytopenia, Diamond-Blackfan anemia, and
severe congenital neutropenia are briefly summarized in this review.
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