Miller-Dieker lissencephaly syndrome
Findings
No curated finding names Miller-Dieker lissencephaly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0009532), read 2026-09-29. CC BY 4.0.
Features
33 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- LissencephalyHPOHP:0001339
- 27 of 27 reported patients
- Very frequent (80% to 99% of cases)
- Short noseHPOHP:0003196
- 26 of 26 reported patients
- Very frequent (80% to 99% of cases)
- Thick upper lip vermilionHPOHP:0000215
- 25 of 25 reported patients
- MicrognathiaHPOHP:0000347
- 26 of 27 reported patients
- Wide nasal bridgeHPOHP:0000431
- 24 of 25 reported patients
- Abnormal upper lip morphologyHPOHP:0000177
- Very frequent (80% to 99% of cases)
Show the remaining 21
- High foreheadHPOHP:0000348
- Very frequent (80% to 99% of cases)
- Posteriorly rotated earsHPOHP:0000358
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Cavum septum pellucidumHPOHP:0002389
- 17 of 22 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 17 of 23 reported patients
- Occasional (5% to 29% of cases)
- Sacral dimpleHPOHP:0000960
Where it sits
Other names
4 names
Resolves to: Miller-Dieker lissencephaly syndrome
- Also called
- lissencephaly due to 17p13.3 deletionMiller-Dieker syndromemonosomy 17p13.3telomeric deletion 17p