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lower limb hypertrophy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lower limb hypertrophy

MONDO:0017477

Overview

Lower limb hypertrophy is a rare, genetic, non-syndromic developmental defect during embryogenesis characterized by uni- or bilateral overgrowth of lower limbs involving bones and/or soft tissues and resulting in an abnormal increase in leg length and/or width. Hypertrophy presents either as a proportionate overgrowth of entire limb or involves only the proximal or distal parts of it. Phenotype ranges from mild hypertrophy without functional disability to massively hypertrophied limb with knee flexion and ankle equinus contractures and macrodystrophia lipomatosa. Patients may also present vascular abnormalities (e.g. cutaneous angiomas, varicose veins) and myalgia.

ResearchLimited published research (5 articles)

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 lower limb hypertrophy.

5 publications have been identified in PubMed for lower limb hypertrophy. Research spans Review / Meta-Analysis (40%), Case Report / Case Series (20%), and Clinical Trial Publication (20%).

Recent Publications

Abraham E (2025). [PMID: 40505135](https://pubmed.ncbi.nlm.nih.gov/40505135/). *J Am Acad Orthop Surg Glob Res Rev*. [Case Report / Case Series]
Lees MJ (2025). [PMID: 41474371](https://pubmed.ncbi.nlm.nih.gov/41474371/). *J Physiol*. [Basic Science / Preclinical]
Smith MJ (2025). [PMID: 39853659](https://pubmed.ncbi.nlm.nih.gov/39853659/). *Sports Med*. [Review / Meta-Analysis]
Deng B (2025). [PMID: 40800729](https://pubmed.ncbi.nlm.nih.gov/40800729/). *Front Physiol*. [Review / Meta-Analysis]
Król T (2024). [PMID: 38888559](https://pubmed.ncbi.nlm.nih.gov/38888559/). *J Sports Med Phys Fitness*. [Clinical Trial Publication]

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 11:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:295051

GARD

Genetic and Rare Diseases Info Center

GARD:21213

Questions for Your Care Team

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lower limb hypertrophy

Overview

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team