Miller-Dieker lissencephaly syndrome

Pathology

• incomplete migration of immature neurons to the cerebral cortex during the 3rd & 4th months of gestation

Genetics

• contiguous gene deletion syndrome of chromosome 17p13.3
• associated with defects in PAFAH1B1

Clinical manifestations

• microcephaly
• large fontanelles
• bitemporal grooving of the forehead
• short nose with upturned nares
• ear anomalies
• micrognathia
• visceral anomalies
• agyria is an inconsistent finding

Laboratory

• chromosome 17p13.3 deletion

More general terms

• genetic syndrome (multisystem disorder)
• central nervous system (CNS) malformation
• developmental disorder syndrome (multisystem disorder)

Additional terms

• platelet-activating factor acetylhydrolase IB subunit alpha; PAF acetylhydrolase 45 kD subunit; PAF-AH 45 kD subunit; PAF-AH alpha; PAFAH alpha; Lissencephaly-1 protein; LIS-1 (PAFAH1B1, LIS1, MDCR, MDS, PAFAHA)

Patient information

Miller-Dieker lissencephaly syndrome patient information

Database

• OMIM: https://mirror.omim.org/entry/247200
• OMIM: https://mirror.omim.org/entry/601545