Bowen-Conradi syndrome

Bowen-Conradi syndrome is a fatal hereditary disorder of ribosome biogenesis. 

The disease mainly affects the Hutterites, a cohabitation whose families moved from South Tyrol to South Dakota in 1870 and have been reproducing amongst each other ever since.

A few sporadic cases could be observed outside the Hutterer community (without the typical gene mutation). Affected are born with serious prosperity deficits and have problems with feeding. Together with microcephaly and other severe symptoms, the disease usually causes death in infancy. 

The cause is a mutation of the EMG1 gene (12p13.3).