Sugarman brachydactyly is one of ten conditions known as oral-facial-digital syndromes (OFDS). OFDS involves problems with the development of parts of the mouth, facial structures, fingers, and toes. For this specific type of OFDS, the main symptoms include having extra fingers or toes, fingers and toes that are shorter than usual, muscle twitching, intellectual disability, and an increased number of teeth. Sometimes, the eyes may also blink when the jaw moves, but this is not true for all cases.
Sugarman brachydactyly is inherited (passed through families) in an autosomal recessive manner. We inherit our genes in pairs, typically one from each parent. 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 inherit two copies of the changed (mutated) gene, one from each parent, in order to have the condition. A person with one changed gene would be a carrier of Sugarman brachydactyly but usually will not have any symptoms. If both parents are carriers of Sugarman brachydactyly, their children have a one in four chance (25%) of having the condition.
There are not any specific tests that can be done to diagnose Sugarman brachydactyly. Usually, doctors can diagnose this condition by looking at the clinical symptoms. For treatment, surgery may be done in order to fix some of the problems with the face, fingers, and toes. If you or a family member has been diagnosed with Sugarman brachydactyly, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.
Description Last Updated: Feb 18, 2018