Bowen syndrome also known as Bowen Hutterite Syndrome, is a rare genetic disorder that appears from birth. Individuals with this condition have growth problems before birth, do not grow as fast as they should as a baby, and have malformations of the head and face. Additionally, as infants, individuals with Bowen syndrome may have trouble feeding, difficulty sucking, and have a small, narrow head with a prominent nose and a small chin. Sometimes, babies also have deformities in the hands and feet, and have limited movements in specific joints and bones in the spinal column. Less frequently, infants with this syndrome also may have kidney and brain problems.
This condition is caused by a mutation in the EMG1 gene. This gene is in charge of making ribosomes in cells that help create proteins in the body. When this gene is mutated, the body cannot do this properly and the disorder occurs. This disorder is inherited recessively. The human body has two copies of each gene, one from your mother and one from your father. In this disorder, both copies need to be mutated since it is recessive. A child must receive a mutated gene from each parent. This condition is usually diagnosed at birth or shortly after birth based on clinical symptoms, family history, and some of the physical findings mentioned above. Genetic testing normally makes diagnosis, either before the baby is born or after they are born.
Treatment varies on the case and symptoms shown. Usually, the treatment involves the coordination of physicians that have expert knowledge in different areas, including bones, joints, muscles, and the heart. Treatment may also include support to improve feeding and to make sure the baby receives enough nutrients. If you or a family member has been diagnosed with Bowen syndrome, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.
Description Last Updated: Jan 27, 2018