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Isolated arhinencephaly is a rare non-syndromic central nervous system malformation defined by the agenesis of the olfactory bulbs and tracts and characterized by complete congenital anosmia.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for isolated arhinencephaly.
14 publications have been identified in PubMed for isolated arhinencephaly. Research spans Epidemiology / Natural History (50%), Case Report / Case Series (36%), and Review / Meta-Analysis (7%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 7 | 50% |
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 8:40 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Patient case studies
5 |
36% |
Research summaries | 1 | 7% |
Laboratory research | 1 | 7% |
Salman MS (2026). [PMID: 41607206](https://pubmed.ncbi.nlm.nih.gov/41607206/). *Can J Neurol Sci*. [Case Report / Case Series]
An J (2026). [PMID: 40801429](https://pubmed.ncbi.nlm.nih.gov/40801429/). *American journal of medical genetics. Part A*. [Case Report / Case Series]
Waller DK (2026). [PMID: 42089396](https://pubmed.ncbi.nlm.nih.gov/42089396/). *Birth Defects Res*. [Epidemiology / Natural History]
Coletti ML (2025). [PMID: 40228397](https://pubmed.ncbi.nlm.nih.gov/40228397/). *Pediatric neurology*. [Epidemiology / Natural History]
Jiménez Cruz J (2025). [PMID: 40040326](https://pubmed.ncbi.nlm.nih.gov/40040326/). *Acta obstetricia et gynecologica Scandinavica*. [Epidemiology / Natural History]
Wan R (2025). [PMID: 41212742](https://pubmed.ncbi.nlm.nih.gov/41212742/). *The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association*. [Epidemiology / Natural History]
Bouafia NA (2025). [PMID: 40335116](https://pubmed.ncbi.nlm.nih.gov/40335116/). *Saudi medical journal*. [Epidemiology / Natural History]
Fisher Y (2025). [PMID: 39658320](https://pubmed.ncbi.nlm.nih.gov/39658320/). *Journal of neuropathology and experimental neurology*. [Epidemiology / Natural History]
Ibold C (2025). [PMID: 41210606](https://pubmed.ncbi.nlm.nih.gov/41210606/). *Geburtshilfe und Frauenheilkunde*. [Basic Science / Preclinical]
Toumi K (2024). [PMID: 39791062](https://pubmed.ncbi.nlm.nih.gov/39791062/). *Cureus*. [Case Report / Case Series]