lissencephaly type 3-metacarpal bone dysplasia syndrome
Findings
No curated finding names lissencephaly type 3-metacarpal bone dysplasia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This syndrome is characterized by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and fetal akinesia sequence.
Definition from the Mondo Disease Ontology (MONDO:0011004), read 2026-09-29. CC BY 4.0.
Features
23 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.
- Intrauterine growth retardationHPOHP:0001511
- Obligate (100% of cases)
- PolyhydramniosHPOHP:0001561
- Obligate (100% of cases)
- Abnormal basal ganglia morphologyHPOHP:0002134
- Very frequent (80% to 99% of cases)
- Abnormal bone structureHPOHP:0003330
- Very frequent (80% to 99% of cases)
- Abnormal cartilage matrixHPOHP:0008178
- Very frequent (80% to 99% of cases)
- Arthrogryposis multiplex congenitaHPOHP:0002804
- Very frequent (80% to 99% of cases)
Show the remaining 11
- Hypoplasia of the brainstemHPOHP:0002365
- Very frequent (80% to 99% of cases)
- LissencephalyHPOHP:0001339
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- Neuronal loss in the cerebral cortexHPOHP:0007190
- Very frequent (80% to 99% of cases)
- PachygyriaHPOHP:0001302
- Very frequent (80% to 99% of cases)
- Partial agenesis of the corpus callosumHPOHP:0001338
Where it sits
- A kind of