NORD gratefully acknowledges David Brouch, NORD Intern from the University of Notre Dame, Jakub Tolar, MD, PhD, Executive Vice Dean, Medical School, Distinguished McKnight University Professor, Department of Pediatrics, Division of Blood and Marrow Transplantation, Director, Stem Cell Institute, Edmund Wallace Tulloch and Anna Marie Tulloch Chair in Stem Cell Biology, Genetics and Genomics, and Blanche P Alter, MD, MPH, FAAP, Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, for assistance in the preparation of this report.
Fanconi anemia (FA) is a rare genetic disorder, in the category of inherited bone marrow failure syndromes. Half the patients are diagnosed prior to age 10, while about 10% are diagnosed as adults. Early diagnoses are facilitated in patients with birth defects, such as small size, abnormal thumbs and/or radial bones, skin pigmentation, small heads, small eyes, abnormal kidney structures, and cardiac and skeletal anomalies. The disorder is often associated with a progressive deficiency of all bone marrow production of blood cells, red blood cells, white blood cells, and platelets. Affected individuals have an increased risk of developing a cancer of blood-forming cells in the bone marrow called acute myeloid leukemia (AML), or tumors of the head, neck, skin, gastrointestinal system, or genital tract. FA occurs equally in males and females, and is found in all ethnic groups. It is usually inherited as an autosomal recessive genetic disorder, but X-linked inheritance has also been reported.
There are several subtypes of FA that result from the inheritance of two gene mutations in each of at least 18 different genes. Most of the subtypes share the characteristic symptoms and findings. Fanconi anemia is not the same as Fanconi syndrome, a rare kidney function disorder.
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