Classification of Disorders
Classification of the Inherited Bone Marrow Failure Syndromes
Pancytopenia
Fanconi's anemia, Shwachman-Diamond syndrome, dyskeratosis congenita, cartilage-hair hypoplasia, Pearson's syndrome, reticular dysgenesis, congenital amegakaryocytic thrombocytopenia, WT syndrome, ataxia-pancytopenia syndrome, familial platelet disorder with predisposition to acute myelogenous leukemia
Predominantly anemia
Diamond-Blackfan anemia, congenital dyserythropoietic anemias, sideroblastic anemia
Predominantly neutropenia
Kostmann's syndrome, cyclic neutropenia, Benign familial neutropenia, Glycogen storage disease Ib, Barth's syndrome, Myelokathexis
Predominantly thrombocytoepnia
Thrombocytopenia absent radii, syndromic familial macro-thrombocytopenia (Alport/Fetchner/Ebstein/Sabastian, May-Hegglin, Mediterranean, Montreal), IVIC syndrome, Bernard-Soulier disease, gray platelets syndrome, familial non-syndromic thrombocytopenia, dyserythropoietic anemia with thrombocytopenia
Bone marrow failure in a patient with other categorized or uncategorized inherited syndrome
Myelodysplastic syndromes in a patient with other categorized or uncategorized inherited syndrome