Anemia, Fanconi's

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,, August 20, 2004)