Miller-Dieker syndrome synonyms

Miller-Dieker syndrome, also known as lissencephaly type 1, is a rare genetic disorder characterized by a smooth brain surface (agyria) or only a few shallow grooves (pachygyria). This condition is caused by a deletion or mutation in a specific region of chromosome 17, known as the 17p13.3 region. Miller-Dieker syndrome is typically associated with severe developmental delays, intellectual disabilities, and various physical abnormalities.

Synonyms for Miller-Dieker syndrome include:

• Lissencephaly type 1


• 17p13.3 deletion syndrome


• LIS1-related lissencephaly


• LIS1 syndrome


• Lissencephaly due to LIS1 mutation

Individuals with Miller-Dieker syndrome often exhibit distinct facial features, such as a high forehead, a short nose with upturned nostrils, and a small chin. They may also have seizures, muscle stiffness, poor muscle tone, and difficulty feeding. Additionally, affected individuals may experience respiratory problems, heart defects, and abnormalities of the fingers, toes, or genitalia.

Diagnosis of Miller-Dieker syndrome is typically made through genetic testing, which can identify the deletion or mutation in the 17p13.3 region. Prenatal testing is also available for families with a history of the condition or those at risk of having a child with Miller-Dieker syndrome.

Unfortunately, there is no cure for Miller-Dieker syndrome. Treatment primarily focuses on managing the symptoms and providing supportive care. This may involve early intervention programs, physical therapy, occupational therapy, speech therapy, and medications to control seizures.

It is important for individuals with Miller-Dieker syndrome to receive comprehensive medical care and ongoing support from a multidisciplinary team of healthcare professionals. Genetic counseling is also recommended for affected individuals and their families to understand the inheritance pattern and the risk of having future affected children.

In conclusion, Miller-Dieker syndrome, also known as lissencephaly type 1, is a rare genetic disorder characterized by a smooth brain surface or shallow grooves. It is associated with severe developmental delays, intellectual disabilities, and various physical abnormalities. Early diagnosis, supportive care, and ongoing medical management are crucial for individuals with Miller-Dieker syndrome.