What is Diamond-Blackfan anemia?

By William Aird

Rare Diseases NIH: Autosomal dominant (rarely X-linked) inherited blood disorder that leads to anemia and is associated with physical abnormalities such as small head size (microcephaly) characteristic  facial features, cleft palate, cleft lip, short and webbed neck, small shoulder blades, and defects of the hands (mostly of the thumbs), as well as defects of the genitalia, urinary tract, eyes and heart. Caused by mutations in several genes. Learn more here.