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isolated congenital auditory ossicle malformation - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

isolated congenital auditory ossicle malformation

MONDO:0015570

Also known as:congenital auditory ossicle malformation without external ear abnormality

Overview

Isolated congenital auditory ossicle malformation is a rare, congential, middle ear anomaly characterized by, usually unilateral and sporadic, variations in the number, size and/or configuration of the ossicles, with no tympanic membrane and external ear abnormalities and no history of trauma or infection. Patients frequently present late, after schooling has started, with non- progressive, conductive hearing loss often associated with speech delay and poor school performance.

ResearchLimited published research (9 articles)

Diagnosis

Biomarker and diagnostic research for isolated congenital auditory ossicle malformation has been reported in the published literature.

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 isolated congenital auditory ossicle malformation.

9 publications have been identified in PubMed for isolated congenital auditory ossicle malformation. Research spans Diagnostic / Biomarker (44%), Case Report / Case Series (33%), and Review / Meta-Analysis (11%).

Recent Publications

Matsunobu T (2026). [PMID: 40128970](https://pubmed.ncbi.nlm.nih.gov/40128970/). *J Nippon Med Sch*. [Case Report / Case Series]
Liao WX (2026). [PMID: 42209172](https://pubmed.ncbi.nlm.nih.gov/42209172/). *Zhonghua Yi Xue Za Zhi*. [Diagnostic / Biomarker]
Otoendoscopy Expert Committee of the Otorhinolaryngology Branch of the China Association of Integrative Medicine (2026). [PMID: 42209171](https://pubmed.ncbi.nlm.nih.gov/42209171/). *Zhonghua Yi Xue Za Zhi*. [Diagnostic / Biomarker]
Pan JY (2025). [PMID: 41167745](https://pubmed.ncbi.nlm.nih.gov/41167745/). *Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi*. [Case Report / Case Series]
Ansari S (2025). [PMID: 39876535](https://pubmed.ncbi.nlm.nih.gov/39876535/). *J Comput Assist Tomogr*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 11:13 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:162526

GARD

Genetic and Rare Diseases Info Center

GARD:20040

Questions for Your Care Team

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isolated congenital auditory ossicle malformation

Overview

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team