Fanconi anemia (FA) is an infrequently occurring autosomal recessive disorder that is genetically and phenotypically heterogeneous. The main features include myriad of congenital malformations, progressive pancytopenia, and predisposition to both hematologic malignancies as well as solid tumors. Here, in this article, topics such as the association of FA with other syndromes, FA-associated genes and cancer susceptibility, researches in FA, gynecological concerns, management, and diagnostic strategies have been discussed elaborately.