Rare genetic disorder caused by deletion of chromosome 17p13.3 including LIS1 gene. Characterized by lissencephaly (smooth brain), severe developmental delay, seizures, and characteristic facial features. Life-limiting condition.

• 1Brain MRI
• 2Genetic testing (FISH, microarray)
• 3Clinical evaluation
• 4EEG
• 5Developmental assessment

Severe neurodevelopmental impairment. Most do not achieve developmental milestones beyond 3-5 months. Seizures often refractory to treatment. Life expectancy typically 2-10 years. Death usually due to respiratory complications or infections. Some survive into teens with intensive support. No regression but no significant developmental gains.

• Genetic counseling
• Prenatal diagnosis
• Preimplantation genetic diagnosis
• Carrier screening