Fanconi anemia (FA) is a rare genetic disease, transmitted in an autosomal 
recessive mode. The clinical phenotype is very broad and heterogeneous, related 
to the wide range of genes involved in this pathology. The classical triad of 
short height, physical abnormalities, and bone marrow failure is suggestive. The 
main physical abnormalities found involve the limbs, spinal column, skin, 
kidneys and urinary tract, and the ORL zone. Recent progress in molecular 
biology has identified 15 genes whose mutation causes FA chromosomal 
instability. FA is diagnosed by cytogenetic examination, then specified by 
molecular analysis. As FA patients may present multiorgan abnormalities and a 
high risk for neoplasia development, their medical follow-up has to be 
multidisciplinary and prolonged throughout life. The main challenges of the 
follow-up are patient information and education. Bone marrow failure, appearing 
during the first decade, requires close hematological monitoring and for severe 
cases requires hematopoietic stem cell transplantation, major and specific care 
with frequent serious complications and high mortality, but this is the only 
curative treatment in FA. Extrahematological care consists in screening for 
organ abnormalities and defects as well as monitoring precancerous lesions and 
tumors.