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humero-radio-ulnar synostosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

humero-radio-ulnar synostosis

MONDO:0017983

Also known as:humero-radio-ulnar fusion

Overview

Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated.

ResearchLimited published research (1 article)

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: Abnormality of the ureter, Cavernous hemangioma, Abnormal thumb morphology, and Radioulnar synostosis and others.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	1	Abnormality of the upper urinary tract

Prognosis

Phenotype severity distribution: 9 very common features.

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 humero-radio-ulnar synostosis.

1 publication has been identified in PubMed for humero-radio-ulnar synostosis. Research spans Epidemiology / Natural History (100%).

Recent Publications

Farhud DD (2024). [PMID: 39430143](https://pubmed.ncbi.nlm.nih.gov/39430143/). *Iranian journal of public health*. [Epidemiology / Natural History]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 6:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:3266

GARD

Genetic and Rare Diseases Info Center

GARD:2749

Questions for Your Care Team

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humero-radio-ulnar synostosis

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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