| 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.
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| Synonym | chromosome 17p13.3 deletion syndrome
lissencephaly syndrome
lissencephaly syndrome, miller dieker
lissencephaly syndrome, miller-dieker
lissencephaly, miller dieker
lissencephaly, miller-dieker
mdls
miller dieker lissencephaly syndrome
miller dieker syndrome
miller dieker syndrome (disorder)
miller-dieker lissencephaly
miller-dieker lissencephaly syndrome
miller-dieker syndrome
miller-dieker syndrome (disorder)
miller-dieker syndrome (disorder) [ambiguous]
syndrome, miller-dieker
syndrome, miller-dieker lissencephaly
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