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lissencephaly type 3-metacarpal bone dysplasia syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lissencephaly type 3-metacarpal bone dysplasia syndrome

MONDO:0011004

Also known as:lissencephaly type 3 and bone dysplasialissencephaly type III and bone dysplasia

Overview

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.

ResearchLimited published research (4 articles)

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for lissencephaly type 3-metacarpal bone dysplasia syndrome.

4 publications have been identified in PubMed for lissencephaly type 3-metacarpal bone dysplasia syndrome. Research spans Review / Meta-Analysis (50%), Other (25%), and Epidemiology / Natural History (25%).

Recent Publications

Ünsal Y (2026). [PMID: 39975416](https://pubmed.ncbi.nlm.nih.gov/39975416/). *J Clin Res Pediatr Endocrinol*. [Review / Meta-Analysis]
Tolmacheva EN (2025). [PMID: 39985054](https://pubmed.ncbi.nlm.nih.gov/39985054/). *Mol Cytogenet*. [Epidemiology / Natural History]
Gogate N (2025). [PMID: 40666329](https://pubmed.ncbi.nlm.nih.gov/40666329/). *medRxiv*. [Other]
Bonati MT (2024). [PMID: 38927613](https://pubmed.ncbi.nlm.nih.gov/38927613/). *Genes (Basel)*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:601160

Orphanet

European rare disease database

Orphanet:86822

GARD

Genetic and Rare Diseases Info Center

GARD:16763

Questions for Your Care Team

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lissencephaly type 3-metacarpal bone dysplasia syndrome

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team