Miller–Dieker lissencephaly syndrome
ORPHA: 531
Overview
syndrome characterized by classical lissencephaly and distinct facial features. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Miller–Dieker lissencephaly syndrome, sourced from HPO and Orphanet clinical annotations.
NephropathyAbnormal upper lip morphologyEpicanthusHigh foreheadAnteverted naresSacral dimpleSeizureAtaxiaLissencephalyGrowth delayOmphalocelePolyhydramniosAbnormality of the cardiovascular systemHypoplasia of the corpus callosumCerebral cortical atrophyEEG abnormalityShort noseClinodactyly of the 5th finger
Classification & Codes
Orphanet Code
ORPHA:531Miller–Dieker lissencephaly syndrome
| Orphanet | ORPHA:531 |
| Treatments | 0 drug(s) |
| Symptoms on record | 18 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO