/Miller-Dieker lissencephaly syndrome

Miller-Dieker lissencephaly syndrome

Rare Disease

MONDO:0009532

Also Known As

Miller-Dieker lissencephaly syndromeMiller-Dieker syndromelissencephaly due to 17p13.3 deletionmonosomy 17p13.3telomeric deletion 17pMDLSMiller-Dieker syndrome chromosome regionchromosome 17P13.3 deletion 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.