[1] CAMT is diagnosed by a bone marrow biopsy and is often initially suspected to be fetal and neonatal alloimmune thrombocytopenia.

Thrombocytopenia and a near absence of megakaryocytes in the bone marrow cause petechiae, purpura, and gastrointestinal, pulmonary or intracranial hemorrhage.

[1] Increased risk of myelodysplastic syndrome and acute myeloid leukemia has been associated with Congenital amegakaryocytic thrombocytopenia.

Congenital amegakaryocytic thrombocytopenia is distinguished from thrombocytopenia-absent radius syndrome on the basis of skeletal hypoplasia in the arms.

Type I-CAMT is more severe and is characterized by low platelet counts and an early progression of bone marrow aplasia associated with pancytopenia.

[1] The second type of Congenital amegakaryocytic thrombocytopenia is milder and presents with a transient increase of platelet counts during the first year of life.

[4][5] Although hematopoietic stem cell transplantation has been shown to cure Congenital amegakaryocytic thrombocytopenia, the association of early bone marrow aplasia worsens prognosis.