About Lissencephaly Syndromes
The New York Center for Rare Diseases supports the mission and guidelines of the Genetic and Rare Diseases Information Center (GARD). The following information is provided by the NIH.
Summary
Lissencephaly is a term that covers a group of diseases that affect the way the brain looks. People with lissencephaly have a lack of brain convolutions (folds), which affects the way the brain works. This happens because of issues with neurons not properly migrating during the development of the brain before birth.
Causes
What Causes This Disease?
Genetic Mutations: Lissencephaly is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing. Genetic mutations may also result from contracted viruses, environmental factors, such as UV radiation from sunlight exposure, or a combination of any of these.
If you suspect you may have this disease, you may want to start collecting your family health history. Information such as other family members who have had similar symptoms, when their/your symptoms first appeared, or exposures to any potential disease-causing environmental factors should be discussed with your medical team.