Temtamy preaxial brachydactyly syndrome is a very rare genetic disease that affects children. Its symptoms include extra fingers or toes, abnormal facial structure, delayed brain development leading to motor and intellectual disabilities, hearing loss, and abnormal tooth formation.
Temtamy preaxial brachydactyly is an autosomal recessive disease. This means the condition is inherited (passed through families) through genes. We inherit our genes in pairs, one from each parent typically. Our genes are what control the growth, development and function of our bodies. If a mistake or error occurs in a gene, it can cause problems. Autosomal recessive means that an individual must have two copies of the changed gene or mutation that causes the condition. A person with one changed gene would be a carrier of the condition but usually will not have any symptoms. If both parents are carriers, their children have a one in four chance (25%) of having the disease.
Speak with your doctor about the best personal plan of action. Resources like the Center for Parent Information and Resources (CPIR) as well as many others are available.
Description Last Updated: May 30, 2018