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microtia (M-A) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microtia

MONDO:0010920

Also known as:M-Acongenital microtiasmicrotia, congenital

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Overview

A congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal.

GeneticsAutosomal dominant

Clinical Trials10 registered · 3 recruiting

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: Microtia; and very common findings: Unilateral conductive hearing impairment. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Ears	1	Unilateral conductive hearing impairment
Brain and nerves

Diagnosis

Biomarker and diagnostic research for microtia has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 very common feature, 5 common features.

Estimated prevalence: 1-5 in 10,000 (Uncommon).

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.

10 clinical trials registered, 3 recruiting. Interventions under study include other interventions and procedural interventions. Pipeline includes 2 PHASE2, 6 NA. Research is primarily sponsored by academic and government institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT05929976](https://clinicaltrials.gov/study/NCT05929976)

Data assembled from 6 of 12 sources · Last updated Nov 3, 2026, 5:10 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600674

Orphanet

European rare disease database

Orphanet:83463

GARD

Genetic and Rare Diseases Info Center

GARD:431

Questions for Your Care Team

→Are any of the 10 active clinical trials a good fit for my situation?
→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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Research Type	Count	% of Total
Clinical study results	36	23%
Laboratory research	30	19%
Disease patterns and progression	30	19%
Research summaries	29	19%
Patient case studies	20	13%
New treatment approaches	7	4%
Testing and diagnosis research	3	2%
Other research	1	1%

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microtia

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

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microtia

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

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