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multiple synostoses syndrome 4 (SYNS4) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

multiple synostoses syndrome 4

MONDO:0054752

Also known as:SYNS4

Overview

GeneticsAutosomal dominant · GDF6 (chr 8)

Clinical Presentation

Features include rarely findings: Brachydactyly. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	2	Overlapping toe, Broad foot

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.

GDF6 encodes growth differentiation factor 6 (455 aa). Growth factor that controls proliferation and cellular differentiation in the retina and bone formation. Plays a key role in regulating apoptosis during retinal development. Highest expression in Cells Cultured fibroblasts (2.7 TPM) and Uterus (2.6 TPM).

Multiple synostoses syndrome 4 is associated with mutations in the GDF6 gene on chromosome 8.

GDF6 is classified as a druggable target (Druggable Genome, Growth Factor, and Transcription Factor categories) with score 0.0.

Diagnosis

Genetic testing for GDF6 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 4.

17 publications have been identified in PubMed for multiple synostoses syndrome 4. Research spans Case Report / Case Series (53%), Epidemiology / Natural History (29%), and Clinical Trial Publication (12%).

Research Type	Count	% of Total
Patient case studies	9	53%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617898

Questions for Your Care Team

→Should I pursue genetic testing for GDF6, 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?

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multiple synostoses syndrome 4

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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