Bowen-Conradi syndrome

Bowen-Conradi syndrome (BCS), also known as Bowen-Conradi Hutterite syndrome, is a rare and severe autosomal recessive disorder characterized by profound prenatal and postnatal growth restriction, intellectual disability, and distinctive facial features. The condition was first described in Hutterite communities in North America, where it occurs at a notably higher frequency due to a founder effect. BCS is caused by mutations in the EMG1 gene (also known as C2orf34), which encodes a protein essential for ribosome biogenesis and is critical for normal cell growth and proliferation. The syndrome affects multiple body systems. Key clinical features include severe intrauterine growth restriction, microcephaly, prominent nose with a narrow bridge, micrognathia (small jaw), rocker-bottom feet, joint contractures (particularly of the fingers), and failure to thrive. Affected infants typically have a distinctive facial appearance with a high-arched or cleft palate, low-set ears, and a narrow forehead. Skeletal abnormalities, cryptorchidism in males, and renal anomalies may also be present. Neurological involvement is significant, with severe psychomotor delay and limited developmental progress. The prognosis for Bowen-Conradi syndrome is very poor. Most affected infants die within the first year of life, typically before two years of age, often due to infections or complications related to failure to thrive. There is currently no curative treatment for BCS, and management is supportive, focusing on nutritional support, management of infections, and palliative care. Genetic counseling is important for affected families, particularly within the Hutterite population where carrier frequency is estimated to be high.

Common questions about Bowen-Conradi syndrome