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arthrogryposis, distal, type 2B2 (DA2B2) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

arthrogryposis, distal, type 2B2

MONDO:0032750

Also known as:DA2B2

Overview

GeneticsAutosomal dominant · TNNT3 (chr 11)

OnsetCONGENITAL

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 always present findings: Talipes equinovarus; and rarely findings: Narrow mouth and Triangular face. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	3	Tapered finger, Overlapping fingers, Short toe

Genetic Landscape

TNNT3 function has not been fully characterized.

Arthrogryposis, distal, type 2B2 is associated with mutations in the TNNT3 gene on chromosome 11.

Diagnosis

Genetic testing for TNNT3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature.

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 arthrogryposis, distal, type 2B2.

4 publications have been identified in PubMed for arthrogryposis, distal, type 2B2. Research spans Other (25%), Review / Meta-Analysis (25%), and Case Report / Case Series (25%).

Recent Publications

Jadidi M (2025). [PMID: 40437600](https://pubmed.ncbi.nlm.nih.gov/40437600/). *Eur J Med Res*. [Basic Science / Preclinical]
Altin N (2025). [PMID: 41473596](https://pubmed.ncbi.nlm.nih.gov/41473596/). *Hum Mutat*. [Case Report / Case Series]
Bradshaw MS (2024). [PMID: 39724242](https://pubmed.ncbi.nlm.nih.gov/39724242/). *PLoS One*. [Other]
Illés A (2024). [PMID: 39062310](https://pubmed.ncbi.nlm.nih.gov/39062310/). *Children (Basel)*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:01 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618435

GARD

Genetic and Rare Diseases Info Center

GARD:16351

Questions for Your Care Team

→Should I pursue genetic testing for TNNT3, 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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arthrogryposis, distal, type 2B2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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