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

Rare Disease

autosomal recessive humeroradial synostosis

MONDO:0009356

Also known as:autosomal recessive humeroradial synostosis (disease)humeroradial synostosis (disease), autosomal recessivehumeroradial synostosis

Overview

Autosomal recessive form of humeroradial synostosis (disease).

GeneticsAutosomal recessive

ResearchLimited published research (8 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: Small earlobe, Wide nasal bridge, Reduced kidney function (renal insufficiency), and Prominent forehead and 3 more.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	1	Reduced kidney function (renal insufficiency)

Explore clinical features

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 autosomal recessive humeroradial synostosis.

8 publications have been identified in PubMed for autosomal recessive humeroradial synostosis. Research spans Case Report / Case Series (63%), Review / Meta-Analysis (25%), and Epidemiology / Natural History (13%).

Recent Publications

Leduc F (2025). [PMID: 40673520](https://pubmed.ncbi.nlm.nih.gov/40673520/). *Clin Genet*. [Review / Meta-Analysis]
Umar M (2025). [PMID: 40746736](https://pubmed.ncbi.nlm.nih.gov/40746736/). *Genes Dis*. [Review / Meta-Analysis]
Lamghare P (2025). [PMID: 41348352](https://pubmed.ncbi.nlm.nih.gov/41348352/). *Ann Afr Med*. [Case Report / Case Series]
Inal HS (2025). [PMID: 39808520](https://pubmed.ncbi.nlm.nih.gov/39808520/). *Prosthet Orthot Int*. [Case Report / Case Series]
Detiger SEL (2025). [PMID: 40693652](https://pubmed.ncbi.nlm.nih.gov/40693652/). *Am J Med Genet A*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 11:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:236400

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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autosomal recessive humeroradial synostosis

Overview

Clinical Presentation

Explore clinical features

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team