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

syndactyly type 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

syndactyly type 3

MONDO:0008514

Also known as:GJA1 non-syndromic syndactylySD3non-syndromic syndactyly caused by mutation in GJA1

Overview

Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers.

GeneticsAutosomal dominant · GJA1 (chr 6)

ResearchLimited published research (2 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 always present findings: 4-5 finger cutaneous syndactyly; and common findings: 3-4 finger cutaneous syndactyly. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	5	Absent middle phalanx of 5th finger, 3-4 finger cutaneous syndactyly, 4-5 finger cutaneous syndactyly

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.

GJA1 encodes gap junction protein alpha 1 (382 aa). Structural component of the gap junction, a specialized intercellular structure consisting of a cluster of closely packed pairs of transmembrane channels, the connexons, that allow passage of small molecules and electrical signals between neighboring cells. Highest expression in Skin Not Sun Exposed Suprapubic (485.1 TPM) and Adrenal Gland (439.8 TPM).

Syndactyly type 3 is associated with mutations in the GJA1 gene on chromosome 6.

The GJA1 protein participates in p-S373-GJA1:p-S-ITGA5:ITGB1 (p-S373-Connexin-43:p-S-Integrin alpha5:Integrin beta1) transports ATP from the cytosol to the extracellular region pathway.

GJA1 is classified as a druggable target (Ion Channel category) with score 0.6.

Diagnosis

Genetic testing for GJA1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 common feature.

Estimated prevalence: Unknown (Unknown prevalence).

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 syndactyly type 3.

2 publications have been identified in PubMed for syndactyly type 3. Research spans Case Report / Case Series (50%) and Epidemiology / Natural History (50%).

Recent Publications

Sarma GR (2025). [PMID: 39934002](https://pubmed.ncbi.nlm.nih.gov/39934002/). *Ann Indian Acad Neurol*. [Case Report / Case Series]
Arduç A (2025). [PMID: 39613947](https://pubmed.ncbi.nlm.nih.gov/39613947/). *Prenat Diagn*. [Epidemiology / Natural History]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 7:50 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:186100

Orphanet

European rare disease database

Orphanet:93404

GARD

Genetic and Rare Diseases Info Center

GARD:5088

Questions for Your Care Team

→Should I pursue genetic testing for GJA1, 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

syndactyly type 3

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team