Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

lissencephaly with cerebellar hypoplasia (LCH) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lissencephaly with cerebellar hypoplasia

MONDO:0019450

Also known as:LCH

Overview

Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F.

ResearchLimited published research (6 articles)

Diagnosis

Biomarker and diagnostic research for lissencephaly with cerebellar hypoplasia has been reported in the published literature.

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

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 with cerebellar hypoplasia.

6 publications have been identified in PubMed for lissencephaly with cerebellar hypoplasia. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (33%), and Diagnostic / Biomarker (17%).

Recent Publications

Hwang S (2026). [PMID: 41152456](https://pubmed.ncbi.nlm.nih.gov/41152456/). *J Hum Genet*. [Epidemiology / Natural History]
Newman JM (2025). [PMID: 40974083](https://pubmed.ncbi.nlm.nih.gov/40974083/). *J Neuropathol Exp Neurol*. [Case Report / Case Series]
Moirangthem A (2025). [PMID: 40186457](https://pubmed.ncbi.nlm.nih.gov/40186457/). *Clin Genet*. [Basic Science / Preclinical]
Duymuş AC (2025). [PMID: 41462156](https://pubmed.ncbi.nlm.nih.gov/41462156/). *BMC Pregnancy Childbirth*. [Diagnostic / Biomarker]
Manning LK (2025). [PMID: 39394905](https://pubmed.ncbi.nlm.nih.gov/39394905/). *Vet Pathol*. [Basic Science / Preclinical]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 3:13 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:86823

GARD

Genetic and Rare Diseases Info Center

GARD:19068

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

lissencephaly with cerebellar hypoplasia

Overview

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team