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schizencephaly - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

schizencephaly

MONDO:0010011

Overview

Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation.

Genetics2 genes (EMX2, SIX3)

Clinical Presentation

Features include: Cerebral cortical atrophy, Agenesis of corpus callosum, and Schizencephaly.

Organ System	Phenotype Count	Example Features
Brain and nerves	1	Cerebral cortical atrophy
Muscles	1	Cerebral cortical atrophy

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

EMX2

EMX2 encodes empty spiracles homeobox 2 (252 aa). Transcription factor, which in cooperation with EMX1, acts to generate the boundary between the roof and archipallium in the developing brain. Highest expression in Uterus (168.5 TPM) and Cervix Endocervix (120.6 TPM).

Schizencephaly has limited evidence linking it to mutations in the EMX2 gene on chromosome 10.

The EMX2 protein participates in Expression of EMX2 in the nephric duct, Expression of PAX2 in the nephric duct, and Expression of RET in the nephric duct pathways.

EMX2 is classified as a druggable target (Transcription Factor category) with score 17.4.

SIX3

SIX3 function has not been fully characterized.

Schizencephaly is associated with mutations in the SIX3 gene on chromosome 2.

Diagnosis

Genetic testing for EMX2, SIX3 is available. Testing is considered research-grade for diagnosis.

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 schizencephaly.

49 publications have been identified in PubMed for schizencephaly. Research spans Case Report / Case Series (69%), Review / Meta-Analysis (12%), and Other (6%).

Research Type	Count	% of Total
Patient case studies	34	69%

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 12:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:269160

Orphanet

European rare disease database

Orphanet:799

GARD

Genetic and Rare Diseases Info Center

GARD:166

Questions for Your Care Team

→Should I pursue genetic testing for the associated genes, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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schizencephaly

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

EMX2

SIX3

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications