Temtamy Syndrome
Temtamy syndrome is a developmental neurological disorder, meaning that it affects the way the brain is formed and how well it functions. In most cases, the bundle of nerve fibers (the corpus callosum) that connects the two sides of the brain is partially or completely missing. Other symptoms may include seizures, changes in the size or function of the eyes, heart problems, intellectual disability, and developmental delay. The syndrome appears to be more common in people from the Middle East, especially Saudi Arabia.
Temtamy syndrome is caused by genetic changes (pathogenic variants or mutations) in the C12orf57 gene. The syndrome is inherited in an autosomal recessive manner. Diagnosis is based on observing symptoms of the syndrome and the results of brain imaging. The diagnosis can be confirmed with genetic testing. Treatment for Temtamy syndrome may include medications to treat seizures, as well as therapies to help manage developmental delays.
Temtamy syndrome is caused by genetic changes (pathogenic variants or mutations) in the C12orf57 gene. The syndrome is inherited in an autosomal recessive manner. Diagnosis is based on observing symptoms of the syndrome and the results of brain imaging. The diagnosis can be confirmed with genetic testing. Treatment for Temtamy syndrome may include medications to treat seizures, as well as therapies to help manage developmental delays.