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

multiple synostoses syndrome 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

multiple synostoses syndrome 3

MONDO:0013064

Also known as:FGF9 multiple synostoses syndromemultiple synostoses syndrome caused by mutation in FGF9multiple synostoses syndrome type 3

Overview

Any multiple synostoses syndrome in which the cause of the disease is a mutation in the FGF9 gene.

GeneticsAutosomal dominant · FGF9 (chr 13)

ResearchLimited published research (4 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 rarely findings: Cutaneous syndactyly of toes, Hallux varus, Broad thumb, and Broad hallux and others. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	1	Cleft palate
Arms and legs

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

FGF9 encodes fibroblast growth factor 9 (208 aa). Plays an important role in the regulation of embryonic development, cell proliferation, cell differentiation and cell migration. Highest expression in Brain Cerebellar Hemisphere (29.8 TPM) and Brain Cerebellum (24.4 TPM).

Multiple synostoses syndrome 3 is associated with mutations in the FGF9 gene on chromosome 13.

The FGF9 protein participates in Expression of FGF9 in testis differentiation, FGFR1c P252X mutants bind ligand with enhanced affinity, and Expression of SOX9 in testis differentiation pathways.

FGF9 is classified as a druggable target (Clinically Actionable, Druggable Genome, and Growth Factor categories) with score 0.0.

Diagnosis

Genetic testing for FGF9 is available. Testing is considered confirmatory for diagnosis.

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 multiple synostoses syndrome 3.

4 publications have been identified in PubMed for multiple synostoses syndrome 3. Research spans Review / Meta-Analysis (75%) and Case Report / Case Series (25%).

Recent Publications

Qin S (2025). [PMID: 40413497](https://pubmed.ncbi.nlm.nih.gov/40413497/). *Ital J Pediatr*. [Case Report / Case Series]
Leduc F (2025). [PMID: 40673520](https://pubmed.ncbi.nlm.nih.gov/40673520/). *Clin Genet*. [Review / Meta-Analysis]
Yin H (2024). [PMID: 37783652](https://pubmed.ncbi.nlm.nih.gov/37783652/). *Differentiation*. [Review / Meta-Analysis]
Deng M (2024). [PMID: 39097287](https://pubmed.ncbi.nlm.nih.gov/39097287/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:48 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612961

GARD

Genetic and Rare Diseases Info Center

GARD:15597

Questions for Your Care Team

→Should I pursue genetic testing for FGF9, and what would the results mean for my family?
→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

multiple synostoses syndrome 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features