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humeral agenesis/hypoplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

humeral agenesis/hypoplasia

MONDO:0017440

Also known as:congenital absence of humeruscongenital hypoplasia of humerushumeral intercalary meromelia

Overview

Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist.

Diagnosis

Biomarker and diagnostic research for humeral agenesis/hypoplasia has been reported in the published literature.

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 humeral agenesis/hypoplasia.

209 publications have been identified in PubMed for humeral agenesis/hypoplasia. Kisho has analyzed 38 by research type. Research spans Basic Science / Preclinical (53%), Review / Meta-Analysis (13%), and Epidemiology / Natural History (13%).

Research Type	Count	% of Total
Laboratory research	20	53%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 6:52 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:294973

GARD

Genetic and Rare Diseases Info Center

GARD:21192

Questions for Your Care Team

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humeral agenesis/hypoplasia

Overview

Diagnosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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