Bowen-Conradi syndrome

Bowen-Conradi syndrome is a rare genetic condition that affects the growth and development of children before and after birth. People with this condition experience severe growth retardation, very small head size (microcephaly), and have a distinctive facial appearance. These physical features can be noticeable in early life. In addition to these characteristics, Bowen-Conradi syndrome is marked by extreme delays in motor and mental development, and there can be problems with joint movement such as hip and knee contractures as well as rockerbottom feet. It is known as a lethal condition, meaning that it has significant impacts on survival and overall health during infancy.

The symptoms of Bowen-Conradi syndrome include severe prenatal and postnatal growth retardation, microcephaly with a small head size, and a distinct facial appearance. There is also extreme psychomotor delay, meaning that development of movement and mental skills is significantly delayed. Additionally, people with this condition may have joint contractures in the hips and knees and a type of foot structure known as rockerbottom feet.

Bowen-Conradi syndrome is caused by changes in a gene known as EMG1. The condition is inherited in an autosomal recessive pattern, which means that a child needs to receive a copy of the altered gene from both parents to develop the syndrome.

Information about treatment is currently limited for this condition.

Bowen-Conradi syndrome is considered a lethal condition, which means that it severely affects survival. The overall outlook and quality of life considerations are significantly impacted from birth.

Information about current research is currently limited for this condition.