Fanconi anemia is an inherited disorder characterized by a reduced number of all types of blood cells in the body, leading to bone marrow failure. Individuals with Fanconi anemia are usually smaller than average. Other symptoms associated with the disease may include missing bones in the thumbs and arms, increased risk for cancer and leukemia, brown coloring to the skin, and kidney problems. Ultimately, Fanconi anemia affects all systems of the body. Patients rarely reach adulthood.

Fanconi anemia is considered a "chromosome breakage" disease. This means that individuals affected with this disease have an increased rate of breakage and rearrangements along their chromosomes. Chromosomes are structures in each of the cells in our body that contain our genes. Genes make up who we are and help our body to function.

Early diagnosis of this disease can lead to increased surveillance for leukemia and cancers. Therapy with steroids and bone marrow transplantation may be helpful for the reduced amount of blood cells in the body. Affected individuals should avoid X-rays, chemotherapeutic agents, and other environmental exposures that may cause damage to their chromosomes.

Approximately one out of 89 Ashkenazi Jews is a carrier for this disease gene, which is located on chromosome 16.