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

Rare Disease

cephalocele

MONDO:0017078

Also known as:cephalocele (disease)cranium bifidumencephalocele

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Overview

A congenital neural tube closure defect resulting in the protrusion of the brain through a skull opening. When the protrusion includes the meninges, the term encephalomeningocele is used.

Clinical Trials1 registered

Diagnosis

Biomarker and diagnostic research for cephalocele 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.

1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

151 publications have been identified in PubMed for cephalocele. Kisho has analyzed 95 by research type. Research spans Case Report / Case Series (57%), Review / Meta-Analysis (18%), and Epidemiology / Natural History (11%).

Research Type	Count	% of Total
Patient case studies	54	57%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 9:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:268817

GARD

Genetic and Rare Diseases Info Center

GARD:20967

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→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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cephalocele

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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