Fanconi anemia (FA) is a heterogeneous disease characterized by spontaneous 
chromosomal breaks and abnormal DNA repair. Major clinical problems in FA 
include congenital abnormalities, endocrinopathies, early onset bone marrow 
failure and increased risk of myelodysplastic syndrome, acute leukemia and solid 
tumors. To date, 15 different genes have been shown to cause FA, all of which 
have some role in DNA double-strand break repair. Very few strict 
genotype-phenotype associations have been identified and clinical manifestations 
vary widely from patient to patient, most likely due to modifier genes, 
environment and chance effects. Hematopoietic stem cell transplantation is the 
only proven cure for the hematopoietic manifestations of FA and aggressive 
lifelong surveillance for solid tumors is essential.