LGSN
What is Lissencephaly (LIS)?
Description
Lissencephaly (LIS) is a rare, severe neurodevelopmental disorder characterized by the absence or severe underdevelopment of gyri (convolutions) on the surface of the brain. This results in a smooth or "lissen" (smooth) appearance. LIS falls under the broader umbrella of congenital brain malformations known as lissencephalies.
Associated Diseases
LIS is often associated with other medical conditions, including:
- Miller-Dieker Syndrome: A genetic disorder caused by a mutation in the LIS1 gene, leading to severe intellectual disability, seizures, and physical abnormalities.
- Walker-Warburg Syndrome: A genetic disorder that affects multiple organs, including the brain, eyes, and kidneys, and causes developmental problems, microcephaly, and seizures.
- Double Cortex Syndrome: A rare condition in which an extra layer of cortex (brain tissue) forms beneath the typical one, causing seizures, developmental delays, and motor problems.
Did you Know ?
LIS affects approximately 1 in every 100,000 births. However, the actual incidence may be higher as milder forms of LIS can be difficult to diagnose.
