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gingival fibromatosis-facial dysmorphism syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

gingival fibromatosis-facial dysmorphism syndrome

MONDO:0009228

Also known as:fibromatosis, gingival, with distinctive faciesgingival fibromatosis with craniofacial dysmorphismgingival fibromatosis with distinctive facies

Overview

Gingival fibromatosis - facial dysmorphism is a very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism.

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, High palate, and Macrocephaly and others; and common findings: Everted lower lip vermilion and Exaggerated cupid's bow.

Organ System	Phenotype Count	Example Features
Head and neck	3	High palate, Everted lower lip vermilion, Macrocephaly

Diagnosis

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

Prognosis

Phenotype severity distribution: 12 very common features, 2 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-facial dysmorphism syndrome.

51 publications have been identified in PubMed for gingival fibromatosis-facial dysmorphism syndrome. Research spans Case Report / Case Series (49%), Review / Meta-Analysis (14%), and Basic Science / Preclinical (12%).

Research Type	Count	% of Total
Patient case studies	25	49%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:228560

Orphanet

European rare disease database

Orphanet:2025

GARD

Genetic and Rare Diseases Info Center

GARD:10528

Questions for Your Care Team

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Kisho

gingival fibromatosis-facial dysmorphism 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

gingival fibromatosis-facial dysmorphism 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