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arthrogryposis, distal, type 2E - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

arthrogryposis, distal, type 2E

MONDO:0007364

Also known as:contractures of fingers and jaw

Overview

GeneticsAutosomal dominant

ResearchLimited published research (3 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: Microcephaly, Talipes equinovarus, Trismus, and Narrow mouth and 6 more.

Organ System	Phenotype Count	Example Features
Muscles	3	Distal arthrogryposis, Joint contracture of the hand, Foot joint contracture
Head and neck

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 2E.

3 publications have been identified in PubMed for arthrogryposis, distal, type 2E. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (33%), and Gene Therapy / Novel Therapeutics (33%).

Recent Publications

He C (2025). [PMID: 39593234](https://pubmed.ncbi.nlm.nih.gov/39593234/). *Anim Genet*. [Case Report / Case Series]
Shravya MS (2025). [PMID: 40219868](https://pubmed.ncbi.nlm.nih.gov/40219868/). *Am J Med Genet A*. [Gene Therapy / Novel Therapeutics]
Adekeye TE (2024). [PMID: 39345555](https://pubmed.ncbi.nlm.nih.gov/39345555/). *bioRxiv*. [Basic Science / Preclinical]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 8:14 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:121070

GARD

Genetic and Rare Diseases Info Center

GARD:10135

Questions for Your Care Team

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arthrogryposis, distal, type 2E

Overview

Clinical Presentation

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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