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craniotelencephalic dysplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

craniotelencephalic dysplasia

MONDO:0009042

Also known as:Complex of anomalies involving the cranium and brain

Overview

Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983.

ResearchLimited published research (1 article)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Global developmental delay, Craniosynostosis, and Frontal bossing; and common findings: Hydrocephalus, Microcephaly, Posteriorly rotated ears, and Visual impairment and others.

Organ System	Phenotype Count	Example Features
Eyes	3	Visual impairment, Damage to the optic nerve (optic atrophy), Septo-optic dysplasia

Prognosis

Phenotype severity distribution: 3 very common features, 12 common features.

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 craniotelencephalic dysplasia.

1 publication has been identified in PubMed for craniotelencephalic dysplasia. Research spans Epidemiology / Natural History (100%).

Recent Publications

Bartek V (2024). [PMID: 39062246](https://pubmed.ncbi.nlm.nih.gov/39062246/). *Children (Basel)*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:218670

Orphanet

European rare disease database

Orphanet:1528

GARD

Genetic and Rare Diseases Info Center

GARD:1605

Questions for Your Care Team

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craniotelencephalic dysplasia

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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