Synonym: hereditary bone marrow failure, constitutional bone marrow failure
Conditions associated with pancytopenia (aplastic anemia with trilineage failure):
(1) Fanconi's anemia (FA)
(2) Shwachman-Diamond syndrome (SDS)
(3) dyskeratosis congenita (DC)
(4) congenital amegakaryocytic thrombocytopenia (CAMT, see below)
(5) Down syndrome
(6) Dubowitz syndrome
(7) Seckel syndrome
(8) reticular dysgenesis
(9) Schimke immuno-osseous dysplasia
(10) familial aplastic anemia other than Fanconi anemia
Conditions limited to anemia (unilineage failure):
(1) Diamond-Blackfan Anemia (DBA, with red cell aplasia)
(2) congenital dyserythropoietic anemia (type I, II, III, variant)
Conditions limited to neutropenia (unilineage failure):
(1) congenital neutropenia (Kostmann's syndrome, CN)
(2) Barth syndrome
(3) glycogen storage disease type 1b
Conditions limited to thrombocytopenia (unilineage failure):
(1) thrombocytopenia with absent radii (TAR)
(2) congenital amegakaryocytic thrombocytopenia (CAMT, see above)
where:
• About half of patients with CAMT develop aplastic anemia during childhood. There is increased risk of myelodysplasia and acute leukemia.
Features suggesting an inherited bone marrow failure syndrome:
(1) exclusion of acquired bone marrow failure due to drugs or infection
(2) familial pattern (other family members affected, but may be sporadic)
(3) early onset
(4) presence of dysmorphic and/or genetic features
