Fanconi anaemia (FA) is an autosomal recessive disease characterised by 
congenital abnormalities, defective haemopoiesis, and a high risk of developing 
acute myeloid leukaemia and certain solid tumours. Chromosomal instability, 
especially on exposure to alkylating agents, may be shown in affected subjects 
and is the basis for a diagnostic test. FA can be caused by mutations in at 
least seven different genes. Interaction pathways have been established, both 
between the FA proteins and other proteins involved in DNA damage repair, such 
as ATM, BRCA1 and BRCA2, thereby providing a link with other disorders in which 
defective DNA damage repair is a feature. This review summarises the clinical 
features of FA and the natural history of the disease, discusses diagnosis and 
management, and puts the recent molecular advances into the context of the 
cellular and clinical FA phenotype.