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humeroradial synostosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

humeroradial synostosis

MONDO:0007737

Also known as:humero-radial fusionhumeroradial synostosis (disease)humero-radial synostosis

Overview

Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present.

GeneticsAutosomal dominant

ResearchLimited published research (7 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 very common findings: Limitation of joint mobility and Elbow ankylosis; and common findings: Elbow dislocation. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	1	Microcephaly
Bones and joints

Prognosis

Phenotype severity distribution: 2 very common features, 1 common feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 humeroradial synostosis.

7 publications have been identified in PubMed for humeroradial synostosis. Research spans Case Report / Case Series (71%), Review / Meta-Analysis (14%), and Epidemiology / Natural History (14%).

Recent Publications

Detiger SEL (2025). [PMID: 40693652](https://pubmed.ncbi.nlm.nih.gov/40693652/). *Am J Med Genet A*. [Case Report / Case Series]
Inal HS (2025). [PMID: 39808520](https://pubmed.ncbi.nlm.nih.gov/39808520/). *Prosthet Orthot Int*. [Case Report / Case Series]
Lamghare P (2025). [PMID: 41348352](https://pubmed.ncbi.nlm.nih.gov/41348352/). *Ann Afr Med*. [Case Report / Case Series]
Leduc F (2025). [PMID: 40673520](https://pubmed.ncbi.nlm.nih.gov/40673520/). *Clin Genet*. [Review / Meta-Analysis]
Afreh YA (2024). [PMID: 38523722](https://pubmed.ncbi.nlm.nih.gov/38523722/). *Radiol Case Rep*. [Case Report / Case Series]
Brakohiapa EK (2024). [PMID: 38390430](https://pubmed.ncbi.nlm.nih.gov/38390430/). *Radiol Case Rep*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:30 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:143050

Orphanet

European rare disease database

Orphanet:3265

GARD

Genetic and Rare Diseases Info Center

GARD:2748

Questions for Your Care Team

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humeroradial synostosis

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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