The inherited bone marrow failure syndromes are a diverse group of genetic diseases associated with inadequate production of one or more blood cell lineages. Examples include Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, thrombocytopenia absent radii syndrome, severe congenital neutropenia, and Shwachman-Diamond syndrome. The management of these disorders was once the exclusive domain of pediatric subspecialists, but increasingly physicians who care for adults are being called upon to diagnose or treat these conditions. Through a series of patient vignettes, we highlight the clinical manifestations of inherited bone marrow failure syndromes in adolescents and young adults. The diagnostic and therapeutic challenges posed by these diseases are discussed.

Original languageEnglish
Pages (from-to)353-363
Number of pages11
JournalAnnals of Medicine
Issue number6
StatePublished - Sep 1 2014


  • Aplastic anemia
  • Congenital neutropenia
  • Diamond-Blackfan anemia
  • Dyskeratosis congenita
  • Fanconi anemia
  • Myelodysplastic syndromes
  • Shwachman-Diamond syndrome
  • Thrombocytopenia absent radii syndrome


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