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aprosencephaly cerebellar dysgenesis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

aprosencephaly cerebellar dysgenesis

MONDO:0011062

Also known as:aprosencephaly and cerebellar dysgenesis

Overview

GeneticsAutosomal recessive

OnsetANTENATAL

ResearchLimited published research (2 articles)

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 always present findings: Craniosynostosis, Cerebellar dysplasia, Absent mesencephalon, and Aprosencephaly and others; and common findings: Talipes equinovarus and Bifid uvula.

Organ System	Phenotype Count	Example Features
Head and neck	1	Craniosynostosis

Prognosis

Phenotype severity distribution: 7 always present features, 2 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 aprosencephaly cerebellar dysgenesis.

2 publications have been identified in PubMed for aprosencephaly cerebellar dysgenesis. Research spans Review / Meta-Analysis (50%) and Epidemiology / Natural History (50%).

Recent Publications

Bremond-Gignac D (2026). [PMID: 41455383](https://pubmed.ncbi.nlm.nih.gov/41455383/). *J Fr Ophtalmol*. [Review / Meta-Analysis]
Nasri K (2025). [PMID: 39812205](https://pubmed.ncbi.nlm.nih.gov/39812205/). *Tunis Med*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 9:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:601374

Orphanet

European rare disease database

Orphanet:1126

GARD

Genetic and Rare Diseases Info Center

GARD:4518

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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aprosencephaly cerebellar dysgenesis

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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