The diagnostic work up and surveillance of germline disorders of bone marrow failure (BMF) and predisposition to myeloid malignancy is complex and involves correlation between clinical findings, laboratory and genetic studies, and bone marrow histopathology. Proper diagnosis of such cases is important as it may influence surveillance, treatment including donor selection for hematopoietic stem cell (HSCT), and family counseling. Pathologic specimens from patients with these disorders are uncommonly encountered in general practice, and clinical and pathologic overlap with secondary causes of bone marrow failure, acquired aplastic anemia, and myelodysplastic syndrome may result in diagnostic uncertainty. In patients with a known germline predisposition, distinction between baseline bone marrow morphologic abnormalities and bona fide myelodysplastic syndrome (MDS) is challenging. We review characteristic clinicopathologic features that are useful for recognition and diagnosis of constitutional syndromes of bone marrow failure and predisposition to myeloid neoplasia. First, we present general concepts that are useful to conceptualize germline marrow disorders. Second, we detail diagnostically useful features specific to several entities including Fanconi anemia (FA), Shwachman-Diamond syndrome (SDS), telomere biology disorders (TBD), severe congenital neutropenia (SCN), GATA2 deficiency, SAMD9/SAMD9L diseases, Diamond-Blackfan anemia (DBA), and acquired aplastic anemia (AA).