A number of hereditary conditions may result in bone marrow failure with aplasia or hypoplasia.


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)



• 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


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