Tel Hashomer camptodactyly syndrome (THCS) is a rare, genetic disorder that was first identified in 1972. There are cases of THCS throughout many parts of the world. As of 2005, there were only 20 known cases.
The main symptoms of THCS are muscle weakness and problems with the tissue that helps support and connect parts of the body. Many patients with THCS also have shorter arms and legs, a small head size, unusual creases on the palms, one or more bent fingers, and a small distance between the eyes. Other symptoms may include a problem with one of the heart valves (the mitral valve) and a clubfoot. Individuals with THCS have normal mental development.
This condition is inherited (passed through families) in an autosomal recessive manner. 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 in order to have symptoms. 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 of THCS, each child has a one in four chance (25%) of having the condition.
THCS can be diagnosed in babies, children, or adults. It is possible that THCS can be diagnosed before birth by looking at physical characteristics with ultrasound. It can also be diagnosed after birth, when babies are developing, as more symptoms may appear then. If you or a family member has been diagnosed with THCS, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.
Description Last Updated: Feb 15, 2018