Fanconi anemia

A rare inherited disorder in which the bone marrow does not make enough blood cells, including red blood cells, white blood cells, and platelets. It is usually diagnosed before age 15 years. Signs and symptoms include frequent infections, a tendency to bleed easily, and extreme tiredness. People with Fanconi anemia may also have brown spots on the skin, short height, malformed thumbs or forearms, small head or eyes, hearing loss, and abnormalities of the kidneys, gastrointestinal tract, heart, genitals, brain, and spinal cord. They also have an increased risk of developing certain types of cancer, including leukemia and cancers of the skin, head, neck, gastrointestinal system, and genitals. Fanconi anemia is caused by mutations (changes) in certain genes involved in DNA repair.