This rare disorder (>1 in 250,000 births) is characterized by congenital hypoplastic anemia with normal leucocyte and platelet counts.
Approximately 10–25 % are familial with the majority sporadic. Approximately 30–40 % have other congenital anomalies such as upper limb and craniofacial anomalies. There is an increased risk of leukemia (Alter 1987). Gustavsson et al. (1997) estimated that 10–20 % of cases followed a recessive or dominant inheritance pattern, and they mapped a gene to chromosome 19q13 for both recessive and dominant forms. Subsequently, Draptchinskaia et al. (1999) demonstrated germline mutations in the RPS19 gene in Blackfan–Diamond anemia (DBA, MIM105650). Overall about 25 % of DBA patients have RPS19 mutations, but multiple loci have now been identified (Gazda et al. 2001; Boria et al. 2010). Interestingly, there are at least ten forms of DBA, all of which are due to germline mutations in genes responsible for ribosome synthesis. DBA is a consequence of defective ribosome biogenesis and defective protein translation (Boria et al. 2010).
While germline mutations in RPL5 seemed to confer increased risk of thumb, but not craniofacial anomalies, none of those with RPL11 mutations had such anomalies (Gazda et al. 2008).