Miller-Dieker lissencephaly syndrome

Miller-Dieker lissencephaly syndrome is a rare condition caused by a deletion of genetic material on the short arm of chromosome 17. This deletion leads to an abnormally smooth brain with fewer folds and grooves, which is linked to developmental challenges. The condition is associated with intellectual disability, developmental delays, seizures, spasticity, low muscle tone (hypotonia), and feeding difficulties. People with this syndrome usually have distinctive facial features such as a prominent forehead, underdevelopment of the midface, a small and upturned nose, low-set ears, a small jaw, and a thick upper lip. The syndrome is well recognized in scientific literature, including as recorded in OMIM, Orphanet, and GARD.

Common symptoms include intellectual disability, developmental delays, seizures, spasticity, low muscle tone, and feeding difficulties. Distinctive facial features are also noted, such as a prominent forehead, smaller midface, a small upturned nose, low-set ears, a small jaw, and a thick upper lip. These features and symptoms help in recognizing the condition.

Miller-Dieker lissencephaly syndrome is caused by a deletion of genetic material on the short arm of chromosome 17. This genetic change affects brain development, leading to a smooth brain appearance and associated developmental challenges.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.