Fanconi anemia

Fanconi anemia is an inherited disorder in which impaired repair of DNA interstrand crosslinks causes bone marrow failure, congenital abnormalities, and increased cancer risk.

Fanconi anemia pathway: A network of proteins that coordinates the cellular repair of DNA interstrand crosslinks. Inherited defects in this pathway are the molecular basis of Fanconi anemia.
Bone marrow failure: A condition in which bone marrow cannot produce enough blood cells. Progressive marrow failure is a major clinical consequence of the disorder.
Prenatal diagnosis: Testing during pregnancy to determine whether a fetus has a particular genetic or medical condition. Familial variants can enable testing for Fanconi anemia before birth.
Dyskeratosis congenita: An inherited telomere biology disorder that can cause marrow failure, abnormal skin and nails, and cancer risk. It shares marrow failure and cancer predisposition but stems from defective telomere maintenance.
Myelodysplastic syndrome: A group of clonal bone marrow disorders in which abnormal blood-forming cells produce ineffective blood cells. It can develop as a marrow complication and may progress to leukemia.
DNA interstrand crosslink: A covalent bond joining the two strands of a DNA double helix, blocking strand separation. These lesions are the damage type Fanconi anemia cells struggle to repair.
Aplastic anemia: A bone marrow disorder characterized by markedly reduced blood-cell production and a hypocellular marrow. Fanconi anemia is a major inherited cause of aplastic anemia.
Preimplantation genetic testing: Genetic testing of embryos created by in vitro fertilization before an embryo is transferred. It can help families with known Fanconi anemia variants avoid transmitting the disorder.
Diamond–Blackfan anemia: An inherited bone marrow failure syndrome characterized primarily by deficient red blood cell production. It is another genetic marrow-failure syndrome, but its characteristic blood-cell defect differs.
Acute myeloid leukemia: A cancer of immature myeloid blood cells that develops in the bone marrow. Fanconi anemia substantially increases the risk of this leukemia.

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VACTERL associationCompared with: It can produce VACTERL-like anomalies and should be considered as a specific underlying diagnosis.