Humeroradial synostosis is often noticed immediately in infants, but it can be found at any age. Symptoms of humeroradial synostosis often include poor ability to move joints in the elbows and shoulders. This causes a child to be unable to fully extend the arms. Other symptoms include short fingers, toes, or arm bones and a larger nose.
Humeroradial synostosis is a genetic condition caused by a change (mutation) in one of the genes. Genes are what control the growth, development, and function of the body. A mutation causes the gene to not work properly. Each person has two copies of every gene, one from the mother and one from the father. Humeroradial synostosis is passed down from parent to child in an autosomal recessive manner or autosomal dominant manner. Autosomal recessive means one mutation from each parent is inherited by a child in order to cause symptoms. A person with only one mutation is called a carrier because they “carry” one changed copy and one unchanged copy of the gene. Carriers also show no signs or symptoms of the condition. If both parents are carriers, each of their children has a one in four chance (25%) of having the condition and a 50/50 chance of being a carrier. If humeroradial synostosis is passed down from parent to child in an autosomal dominant manner, then only one mutation from one parent is inherited by a child in order to cause symptoms. A person with this condition has a 50/50 chance of passing the condition on to their children.
Treatment for humeroradial synostosis may include surgeries to help the arms extend and bend properly. If you or a family member has been diagnosed with humeroradial synostosis, talk with your doctor about the most current treatment options as well as signs that you may need immediate medical attention.