Aase-Smith syndrome type II

The Aase-Smith Syndrome Type II, also called Diamond Blackfan Anemia (DBA), describes a severe chronic anemia with a low number of red blood cells. This is due to a selective disturbance in the formation of erythrocytes in the bone marrow.

Normochromic, macrocytic anemia is already diagnosed at an early age. Infants are characterized by pallor and dyspnea. Symptoms include congenital malformations. This includes the Pierre-Robin sequence, malformations of the arms and thumbs, and rarely also of the internal organs, such as the heart.

Patients often show small growth and often have a typical "DBA face", which consists of a pug nose, hypertelorism and a strong upper lip. In addition, they have an increased risk of developing diseases such as myelodysplastic syndrome, acute myeolic leukemia or osteosarcoma. 

This autosomal dominant hereditary disease is caused by mutations in genes coding ribosomal proteins.