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 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

multiple synostoses syndrome 2

MONDO:0012394

Also known as:GDF5 multiple synostoses syndromemultiple synostoses syndrome caused by mutation in GDF5multiple synostoses syndrome type 2

Overview

Any multiple synostoses syndrome in which the cause of the disease is a mutation in the GDF5 gene.

GeneticsAutosomal dominant · GDF5 (chr 20)

Clinical Presentation

Features include sometimes findings: Talipes equinovarus. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	1	Vertebral fusion
Arms and legs	1	Finger symphalangism

Explore clinical features

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.

GDF5 encodes growth differentiation factor 5 (501 aa). Growth factor involved in bone and cartilage formation. During cartilage development regulates differentiation of chondrogenic tissue through two pathways. Highest expression in Cells Cultured fibroblasts (7.0 TPM) and Minor Salivary Gland (4.0 TPM).

Multiple synostoses syndrome 2 is associated with mutations in the GDF5 gene on chromosome 20.

The GDF5 protein participates in Signaling by BMP pathway.

GDF5 is classified as a druggable target (Druggable Genome, Growth Factor, and Transcription Factor categories) with score 0.0.

Diagnosis

Genetic testing for GDF5 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 2.

13 publications have been identified in PubMed for multiple synostoses syndrome 2. Research spans Case Report / Case Series (54%), Review / Meta-Analysis (15%), and Other (8%).

Research Type	Count	% of Total
Patient case studies	7	54%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 8:04 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610017

GARD

Genetic and Rare Diseases Info Center

GARD:9916

Questions for Your Care Team

→Should I pursue genetic testing for GDF5, 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 2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications