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Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur.
Biomarker and diagnostic research for femoral agenesis/hypoplasia has been reported in the published literature.
Estimated prevalence: 1-9 in 100,000 (Uncommon).
No clinical trials have been registered for femoral agenesis/hypoplasia.
208 publications have been identified in PubMed for femoral agenesis/hypoplasia. Kisho has analyzed 80 by research type. Research spans Review / Meta-Analysis (26%), Basic Science / Preclinical (24%), and Other (16%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 21 | 26% |
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 1:03 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Laboratory research
19 |
24% |
Other research | 13 | 16% |
Disease patterns and progression | 11 | 14% |
Patient case studies | 7 | 9% |
Testing and diagnosis research | 6 | 8% |
Clinical study results | 2 | 3% |
New treatment approaches | 1 | 1% |
Schmidt G (2026). [PMID: 42259304](https://pubmed.ncbi.nlm.nih.gov/42259304/). *Zentralbl Chir*. [Clinical Trial Publication]
Li H (2026). [PMID: 41942838](https://pubmed.ncbi.nlm.nih.gov/41942838/). *Asia Pac J Clin Oncol*. [Diagnostic / Biomarker]
Samuel E (2026). [PMID: 41943051](https://pubmed.ncbi.nlm.nih.gov/41943051/). *BMC Complement Med Ther*. [Basic Science / Preclinical]
Hamouda M (2026). [PMID: 42248623](https://pubmed.ncbi.nlm.nih.gov/42248623/). *J Vasc Surg*. [Other]
Weinkauf CC (2026). [PMID: 42248628](https://pubmed.ncbi.nlm.nih.gov/42248628/). *J Vasc Surg*. [Other]
Guntinas-Lichius O (2026). [PMID: 42248156](https://pubmed.ncbi.nlm.nih.gov/42248156/). *Laryngorhinootologie*. [Case Report / Case Series]
Unknown (2026). [PMID: 42259307](https://pubmed.ncbi.nlm.nih.gov/42259307/). *Zentralbl Chir*. [Case Report / Case Series]
Xu K (2026). [PMID: 42250650](https://pubmed.ncbi.nlm.nih.gov/42250650/). *J Nutr*. [Basic Science / Preclinical]
van Renterghem AR (2026). [PMID: 42246575](https://pubmed.ncbi.nlm.nih.gov/42246575/). *Dis Colon Rectum*. [Case Report / Case Series]
Qiu X (2026). [PMID: 41942889](https://pubmed.ncbi.nlm.nih.gov/41942889/). *BMC Microbiol*. [Gene Therapy / Novel Therapeutics]