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hemimelia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hemimelia

MONDO:0016240

Also known as:longitudinal meromelia

Overview

Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia. Hemimelia ranges in severity.

Prognosis

Estimated prevalence: 1-9 in 100,000 (Uncommon).

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 hemimelia.

44 publications have been identified in PubMed for hemimelia. Research spans Case Report / Case Series (48%), Clinical Trial Publication (27%), and Epidemiology / Natural History (14%).

Research Type	Count	% of Total
Patient case studies	21	48%

Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 9:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2130

GARD

Genetic and Rare Diseases Info Center

GARD:18761

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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hemimelia

Overview

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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