Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

congenital hereditary facial paralysis-variable hearing loss syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital hereditary facial paralysis-variable hearing loss syndrome

MONDO:0017627

Also known as:congenital hereditary facial palsy with variable deafnesscongenital hereditary facial palsy with variable hearing losscongenital hereditary facial paralysis with variable deafness

Overview

Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus.

ResearchLimited published research (3 articles)

Diagnosis

Biomarker and diagnostic research for congenital hereditary facial paralysis-variable hearing loss syndrome has been reported in the published literature.

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 congenital hereditary facial paralysis-variable hearing loss syndrome.

3 publications have been identified in PubMed for congenital hereditary facial paralysis-variable hearing loss syndrome. Research spans Diagnostic / Biomarker (33%), Review / Meta-Analysis (33%), and Basic Science / Preclinical (33%).

Recent Publications

Almpani K (2026). [PMID: 40611650](https://pubmed.ncbi.nlm.nih.gov/40611650/). *Cleft Palate Craniofac J*. [Basic Science / Preclinical]
Webb BD (2025). [PMID: 40662098](https://pubmed.ncbi.nlm.nih.gov/40662098/). *Genet Med Open*. [Review / Meta-Analysis]
Lee NK (2024). [PMID: 39062005](https://pubmed.ncbi.nlm.nih.gov/39062005/). *Biomedicines*. [Diagnostic / Biomarker]

Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 12:01 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:306530

GARD

Genetic and Rare Diseases Info Center

GARD:17379

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

congenital hereditary facial paralysis-variable hearing loss syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team