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thickened earlobes-conductive deafness syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

thickened earlobes-conductive deafness syndrome

MONDO:0007504

Also known as:Escher-Hirt syndromeearlobes, thickened, with conductive deafness from incudostapedial abnormalities

Overview

Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant.

GeneticsAutosomal dominant

ResearchLimited published research (5 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: Congenital conductive hearing impairment, Abnormality of the middle ear ossicles, Absent stapes head, and Abnormal malleus morphology and 3 more.

Organ System	Phenotype Count	Example Features
Ears	2	Congenital conductive hearing impairment, Bilateral conductive hearing impairment

Prognosis

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 thickened earlobes-conductive deafness syndrome.

5 publications have been identified in PubMed for thickened earlobes-conductive deafness syndrome. Research spans Case Report / Case Series (80%) and Basic Science / Preclinical (20%).

Recent Publications

Rietmann SJ (2026). [PMID: 41601192](https://pubmed.ncbi.nlm.nih.gov/41601192/). *Anim Genet*. [Case Report / Case Series]
Zhang Y (2026). [PMID: 42087738](https://pubmed.ncbi.nlm.nih.gov/42087738/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Case Report / Case Series]
Kumar U (2026). [PMID: 42083422](https://pubmed.ncbi.nlm.nih.gov/42083422/). *J Genet*. [Case Report / Case Series]
Dong Y (2025). [PMID: 39725295](https://pubmed.ncbi.nlm.nih.gov/39725295/). *Am J Pathol*. [Basic Science / Preclinical]
Saha S (2024). [PMID: 38842721](https://pubmed.ncbi.nlm.nih.gov/38842721/). *Pediatr Nephrol*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:24 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:128980

Orphanet

European rare disease database

Orphanet:2405

GARD

Genetic and Rare Diseases Info Center

GARD:2195

Questions for Your Care Team

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thickened earlobes-conductive deafness syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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