Congenital disorder affecting all bone marrow elements, resulting in anemia; leukopenia; and thrombopenia, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. spontaneous chromosome breakage is a feature of this disease along with predisposition to leukemia. there are at least 7 complementation groups in fanconi anemia: fanca, fancb, fancc, fancd1, fancd2, fance, fancf, fancg, and fancl. (from online mendelian inheritance in man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, august 20, 2004)

Fanconi anemia (FA) is a rare, autosomal recessive, genetic disease resulting in impaired response to DNA damage in the FA/BRCA pathway. Although it is a very rare disorder, the study of this and other bone marrow failure syndromes has improved scientific understanding of the mechanisms of normal bone marrow function and the development of cancer...