Miller-Dieker lissencephaly syndrome
Miller-Dieker lissencephaly syndrome
Definition
A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip.
Also known as lissencephaly due to 17p13.3 deletion, Miller-Dieker lissencephaly syndrome, Miller-Dieker syndrome, monosomy 17p13.3, telomeric deletion 17p — per MONDO