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gingival fibromatosis-progressive deafness syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

gingival fibromatosis-progressive deafness syndrome

MONDO:0007612

Also known as:Jones syndromeGFDfamilial gingival fibromatosis associated with progressive deafness

Overview

Gingival fibromatosis-progressive deafness syndrome is characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait.

GeneticsAutosomal dominant

ResearchLimited published research (6 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 very common findings: Gingival fibromatosis, Gingival overgrowth, Inner ear hearing loss (sensorineural hearing impairment), and Delayed eruption of teeth. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Ears	2	Progressive sensorineural hearing impairment, Inner ear hearing loss (sensorineural hearing impairment)

Diagnosis

Biomarker and diagnostic research for gingival fibromatosis-progressive deafness syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 very common features.

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 gingival fibromatosis-progressive deafness syndrome.

7 publications have been identified in PubMed for gingival fibromatosis-progressive deafness syndrome. Research spans Case Report / Case Series (83%) and Diagnostic / Biomarker (17%).

Recent Publications

Lodato V (2026). [PMID: 40605398](https://pubmed.ncbi.nlm.nih.gov/40605398/). *Clin Genet*. [Case Report / Case Series]
Saleh TS (2025). [PMID: 40883811](https://pubmed.ncbi.nlm.nih.gov/40883811/). *J Med Case Rep*. [Case Report / Case Series]
Xie X (2025). [PMID: 41488893](https://pubmed.ncbi.nlm.nih.gov/41488893/). *Front Pediatr*. [Case Report / Case Series]
Goel H (2025). [PMID: 40908550](https://pubmed.ncbi.nlm.nih.gov/40908550/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Yuan X (2025). [PMID: 41152794](https://pubmed.ncbi.nlm.nih.gov/41152794/). *BMC Pediatr*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:135550

Orphanet

European rare disease database

Orphanet:2027

GARD

Genetic and Rare Diseases Info Center

GARD:3056

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gingival fibromatosis-progressive deafness syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

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