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deafness-ear malformation-facial palsy syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

deafness-ear malformation-facial palsy syndrome

MONDO:0007421

Also known as:Sellars-Beighton syndromedeafness, conductive stapedial, with EAR malformation and facial palsy

Overview

Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant.

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 very common findings: Conductive hearing impairment, Abnormal pinna morphology, Abnormal stapes morphology, and Abnormal antihelix morphology and others; and common findings: Abnormal periauricular region morphology.

Organ System	Phenotype Count	Example Features
Ears	1	Conductive hearing impairment

Diagnosis

Biomarker and diagnostic research for deafness-ear malformation-facial palsy syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 7 very common features, 1 common feature.

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 deafness-ear malformation-facial palsy syndrome.

104 publications have been identified in PubMed for deafness-ear malformation-facial palsy syndrome. Kisho has analyzed 58 by research type. Research spans Review / Meta-Analysis (74%), Basic Science / Preclinical (16%), and Case Report / Case Series (5%).

Research Type	Count	% of Total
Research summaries	43	74%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:08 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:124490

Orphanet

European rare disease database

Orphanet:3232

GARD

Genetic and Rare Diseases Info Center

GARD:1684

Questions for Your Care Team

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Kisho

deafness-ear malformation-facial palsy syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

deafness-ear malformation-facial palsy syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications