D2I2.
genetic

Fanconi anaemia

Fanconi (FA), also known as Fanconi cancer, is a rare, disease characterized by aplastic anemia, defects, endocrinological abnormalities, and an increased of developing cancer. The study of Fanconi anemia has improved scientific understanding of the mechanisms of normal bone function and the development of cancer. Among those affected, the majority develop cancer, most often acute myelogenous (AML), myelodysplastic (MDS), and liver cancer. 90% develop aplastic anemia by age 40. About 60–75% have congenital defects, commonly short , abnormalities of the skin, arms, head, eyes, kidneys, and ears, and developmental disabilities. Around 75% have some form of problem, with varying degrees of severity. 60% of FA is FANC-A, 16q24.3, which has a later onset of bone marrow failure.

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Plain-language summary adapted from Wikipedia. Not medical advice.