Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk of malignancy. Physical abnormalities, present in 60%-75% of affected individuals, include one or more of the following: short stature; abnormal skin pigmentation; malformations of the thumbs, forearms, skeletal system, eyes, kidneys and urinary tract, ears (and decreased hearing), heart, gastrointestinal system, central nervous system; hypogonadism; and developmental delay. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. By age 40 to 50 years, the estimated cumulative incidence of bone marrow failure is 90%; the incidence of hematologic malignancies (primarily acute myeloid leukemia) 10%-30%; and of nonhematologic malignancies (solid tumors, particularly of the head and neck, skin, GI tract, and genital tract) 25%-30%. [from GeneReviews, Fanconi Anemia, pubmed:20301575 2016.06.01]

Fanconi anemia is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011, pubmed:21568838). [From MIM:227650, 2016.05.26]

Abnormalities of Fanconi anemia (FA) genes are inherited in an autosomal recessive manner except for pathogenic variants in FANCB, which are inherited in an X-linked manner. [from GeneReviews, Fanconi Anemia, pubmed:20301575 2016.06.01]

Fancomi anemia is associated with mutations in the genes encoding a cluster of proteins responsible for DNA repair. [From MIM:227650, 2016.05.26]