Bowen–Conradi syndrome is a disease in humans that can affect children.
[2] The disease is due to an autosomal recessive abnormality of the EMG1 gene, which plays a role in small ribosomal subunit (SSU) assembly.
[1][3] The preponderance of diagnoses has been in North American Hutterite children, but BWCNS can affect other population groups.
[1][5] A D86G mutation of EMG1 destroys an EcoRV restriction endonuclease site in the most highly conserved region of the protein.
[3] Skeletal dysmorphology is seen[2][4] and severe prenatal and postnatal growth failure usually leads to death by one year of age.