Tukel syndrome is a rare genetic disorder. There have been six people with the condition who came from a large Turkish family. The parents in this family came from the same ancestors.
Tukel syndrome is thought to be an autosomal recessive disease. This means both parents of the individual must pass down a changed (mutated) gene in order for the individual to have the condition. A person with one changed gene is called a carrier because they have one changed and one unchanged copy of the gene. A carrier usually does not show symptoms of the condition. If both parents are carriers of Tukel syndrome, each of their children has a one in four (25%) chance of having the condition.
One symptom of Tukel syndrome is weakness of the eye muscles. The individual may not be able to see clearly (blurry vision or double vision), may be unable to keep their eyes in the correct position, or may be unable to move their eyes at the same time. People with Tukel syndrome especially have a difficult time looking upward, but side-to-side sight may be affected, too. This often leads to the individual moving their head completely instead of moving their eyes to look at objects. A droopy eyelid of one or both of the eyes is common with Tukel syndrome. Drooping typically affects the right eye.
Another symptom of Tukel syndrome is having atypical hands and feet. In this condition, one or more fingers or toes may be missing. This typically affects the right hand. Furthermore, the individual with Tukel syndrome may also have a slight intellectual disability. If you or a family member has been diagnosed with Tukel syndrome, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.
Description Last Updated: Feb 12, 2018