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This syndrome is characterized by total or partial anosmia at birth. So far, 15 patients have been described. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. The mode of transmission appears to be autosomal dominant with incomplete penetrance. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome.
Features include: Anosmia.
Age of onset: at birth.
Biomarker and diagnostic research for isolated congenital anosmia has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for isolated congenital anosmia.
18 publications have been identified in PubMed for isolated congenital anosmia. Research spans Basic Science / Preclinical (28%), Case Report / Case Series (22%), and Review / Meta-Analysis (17%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 5 | 28% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:52 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
4 |
22% |
Research summaries | 3 | 17% |
Testing and diagnosis research | 2 | 11% |
Disease patterns and progression | 2 | 11% |
Clinical study results | 1 | 6% |
New treatment approaches | 1 | 6% |
Bhargava EK (2026). [PMID: 41822178](https://pubmed.ncbi.nlm.nih.gov/41822178/). *Case reports in otolaryngology*. [Case Report / Case Series]
Huang Y (2026). [PMID: 41905561](https://pubmed.ncbi.nlm.nih.gov/41905561/). *Neuroscience and biobehavioral reviews*. [Review / Meta-Analysis]
Brosse S (2026). [PMID: 42135321](https://pubmed.ncbi.nlm.nih.gov/42135321/). *NPJ Parkinsons Dis*. [Case Report / Case Series]
Winter AL (2026). [PMID: 42142079](https://pubmed.ncbi.nlm.nih.gov/42142079/). *Neural Plast*. [Basic Science / Preclinical]
Lee WY (2026). [PMID: 42149672](https://pubmed.ncbi.nlm.nih.gov/42149672/). *Rhinology*. [Epidemiology / Natural History]
Liu J (2025). [PMID: 40339214](https://pubmed.ncbi.nlm.nih.gov/40339214/). *American journal of otolaryngology*. [Diagnostic / Biomarker]
Chao YT (2025). [PMID: 40448824](https://pubmed.ncbi.nlm.nih.gov/40448824/). *Brain structure & function*. [Basic Science / Preclinical]
Lechien JR (2025). [PMID: 39608252](https://pubmed.ncbi.nlm.nih.gov/39608252/). *Brazilian journal of otorhinolaryngology*. [Case Report / Case Series]
Juratli JH (2025). [PMID: 39428867](https://pubmed.ncbi.nlm.nih.gov/39428867/). *American journal of rhinology & allergy*. [Diagnostic / Biomarker]
Alotaibi NH (2025). [PMID: 35931064](https://pubmed.ncbi.nlm.nih.gov/35931064/). *Ear, nose, & throat journal*. [Review / Meta-Analysis]
AI-curated news mentioning isolated congenital anosmia
Updated May 14, 2026
A case report highlights the occurrence of Parkinson's disease in a patient with isolated congenital anosmia and absent olfactory bulbs. This finding may provide insights into the relationship between olfactory function and neurodegenerative diseases.