Fanconi Anemia

**Definition:** 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)

**Tree numbers:** - C15.378.050.085.080.280 - C15.378.190.223.500.500.280 - C16.320.077.280 - C18.452.284.280

**Synonyms:** - Anemia, Fanconi - Fanconi's Anemia - Fanconi Hypoplastic Anemia - Fanconi Pancytopenia - Fanconi Panmyelopathy