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Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma and hepoblastoma.
Features include sometimes findings: Mild intellectual disability. 7 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 2 | Sideways curvature of the spine (scoliosis), Skeletal muscle hypertrophy |
Brain and nerves |
Biomarker and diagnostic research for isolated hemihyperplasia has been reported in the published literature.
Estimated prevalence: 1-9 in 100,000 (Uncommon).
No clinical trials have been registered for isolated hemihyperplasia.
29 publications have been identified in PubMed for isolated hemihyperplasia. Research spans Case Report / Case Series (69%), Review / Meta-Analysis (17%), and Basic Science / Preclinical (7%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 20 | 69% |
Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 2:02 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
1 |
Mild intellectual disability |
Kidneys and urinary system | 1 | Nephroblastoma |
Muscles | 1 | Skeletal muscle hypertrophy |
5 |
17% |
Laboratory research | 2 | 7% |
Testing and diagnosis research | 1 | 3% |
Disease patterns and progression | 1 | 3% |
Daley SF (2026). [PMID: 32644419](https://pubmed.ncbi.nlm.nih.gov/32644419/). *Unknown Journal*. [Review / Meta-Analysis]
Stewart R (2026). [PMID: 40838347](https://pubmed.ncbi.nlm.nih.gov/40838347/). *Am J Med Genet A*. [Case Report / Case Series]
Lee SK (2026). [PMID: 41990146](https://pubmed.ncbi.nlm.nih.gov/41990146/). *JBJS Case Connect*. [Case Report / Case Series]
Johnson CR (2026). [PMID: 41522263](https://pubmed.ncbi.nlm.nih.gov/41522263/). *Case Rep Radiol*. [Diagnostic / Biomarker]
Roepke E (2026). [PMID: 40934979](https://pubmed.ncbi.nlm.nih.gov/40934979/). *Gastroenterology*. [Case Report / Case Series]
Rathaur VK (2026). [PMID: 42112053](https://pubmed.ncbi.nlm.nih.gov/42112053/). *Ann Pediatr Cardiol*. [Case Report / Case Series]
Sridhar U (2026). [PMID: 35593818](https://pubmed.ncbi.nlm.nih.gov/35593818/). *Unknown Journal*. [Review / Meta-Analysis]
Lee W (2026). [PMID: 41913935](https://pubmed.ncbi.nlm.nih.gov/41913935/). *J Child Orthop*. [Epidemiology / Natural History]
Abraham E (2025). [PMID: 40505135](https://pubmed.ncbi.nlm.nih.gov/40505135/). *J Am Acad Orthop Surg Glob Res Rev*. [Case Report / Case Series]
Terefe F (2025). [PMID: 40894991](https://pubmed.ncbi.nlm.nih.gov/40894991/). *Radiol Case Rep*. [Case Report / Case Series]