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fountain syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

fountain syndrome

MONDO:0009241

Also known as:deafness-skeletal dysplasia-coarse face with full lips syndromedeafness-skeletal dysplasia-lip granuloma syndromedeafness, skeletal dysplasia, lip granuloma

Overview

Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features.

GeneticsAutosomal recessive

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: Facial edema, Inner ear hearing loss (sensorineural hearing impairment), Coarse facial features, and Thick lower lip vermilion and others; and common findings: Wide mouth, Everted lower lip vermilion, Full cheeks, and Hyperextensible skin and others. 48 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	9	Facial edema, Coarse facial features, Thick lower lip vermilion

Diagnosis

Biomarker and diagnostic research for fountain syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 8 very common features, 7 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 fountain syndrome.

16 publications have been identified in PubMed for fountain syndrome. Research spans Basic Science / Preclinical (56%), Gene Therapy / Novel Therapeutics (19%), and Case Report / Case Series (13%).

Research Type	Count	% of Total
Laboratory research	9	56%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 8:57 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:229120

Orphanet

European rare disease database

Orphanet:3219

GARD

Genetic and Rare Diseases Info Center

GARD:64

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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fountain 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

fountain 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