Fanconi anemia
Fanconi anemia is a rare genetic disorder that affects the body's ability to produce blood cells. It is caused by mutations in specific genes that are crucial for DNA repair. Individuals with this condition often experience bone marrow failure, leading to anemia, increased risk of infections, and a higher likelihood of developing certain cancers.
Symptoms of Fanconi anemia can include physical abnormalities, such as short stature and skeletal issues, as well as skin changes like café-au-lait spots. Diagnosis typically involves blood tests and genetic testing, and treatment may include blood transfusions, medications, or bone marrow transplants.