Bowen syndrome

Bowen syndrome, also known as Bowen-Conradi syndrome, is an extremely rare autosomal recessive disorder first described in Hutterite communities of Western Canada. It is characterized by severe prenatal and postnatal growth restriction (intrauterine growth retardation and failure to thrive), profound psychomotor delay, microcephaly, and distinctive facial features including a prominent nose with a high and narrow bridge, micrognathia (small jaw), and rocker-bottom feet. The condition is caused by mutations in the EMG1 gene (also known as NEP1), which encodes a protein essential for ribosome biogenesis and 18S ribosomal RNA processing. This disruption in fundamental cellular machinery leads to widespread developmental abnormalities. Affected infants typically present at birth with low birth weight, joint contractures or limitations, and clinodactyly (curved fingers). Additional features may include cryptorchidism in males, congenital heart defects, and renal anomalies. Neurological involvement is severe, with minimal developmental progress. The prognosis is very poor, with most affected infants dying within the first year of life, often within the first few months. There is currently no curative treatment for Bowen-Conradi syndrome. Management is supportive and palliative, focusing on nutritional support, management of feeding difficulties, and comfort care. Genetic counseling is important for affected families, particularly within the Hutterite population where the carrier frequency is significantly elevated due to a founder effect. Prenatal and carrier testing are available for families with known mutations.

Common questions about Bowen syndrome