Miller-Dieker syndrome


Disease Overview

Miller-Dieker syndrome (MDS) is a genetic condition characterized by a specific brain malformation (lissencephaly); distinctive facial features; and severe neurologic abnormalities including intellectual disability and seizures. Very few affected children survive beyond childhood.[11528][3034] MDS is caused by a deletion (missing piece) of genetic material on the short arm of chromosome 17 (17p).[3034] Most cases are not inherited and occur randomly. In some cases, it is caused by inheriting a chromosome rearrangement (balanced translocation) from an unaffected parent.[3034] Treatment is based on the symptoms in each person and aims to prevent complications and control seizures.[3035]


  • Miller-Dieker lissencephaly syndrome
  • MDLS

For more information, visit GARD.

National Organization for Rare Disorders