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Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date.
Features include: Patellar hypoplasia, Patellar aplasia, and Abnormality of the skin.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Skin | 1 | Abnormality of the skin |
Biomarker and diagnostic research for patella aplasia/hypoplasia has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
104 publications have been identified in PubMed for patella aplasia/hypoplasia. Research spans Review / Meta-Analysis (42%), Case Report / Case Series (17%), and Epidemiology / Natural History (17%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 35 | 42% |
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:16 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Patient case studies |
14 |
17% |
Disease patterns and progression | 14 | 17% |
Laboratory research | 10 | 12% |
Testing and diagnosis research | 6 | 7% |
Clinical study results | 3 | 4% |
New treatment approaches | 2 | 2% |
Li YM (2026). [PMID: 42252230](https://pubmed.ncbi.nlm.nih.gov/42252230/). *Zhonghua Yan Ke Za Zhi*. [Basic Science / Preclinical]
Halperin Z (2026). [PMID: 40995837](https://pubmed.ncbi.nlm.nih.gov/40995837/). *Am J Med Genet A*. [Review / Meta-Analysis]
Liu Y (2026). [PMID: 41719335](https://pubmed.ncbi.nlm.nih.gov/41719335/). *Proc Natl Acad Sci U S A*. [Diagnostic / Biomarker]
Portela Carvalho C (2026). [PMID: 41525162](https://pubmed.ncbi.nlm.nih.gov/41525162/). *Acta Med Port*. [Review / Meta-Analysis]
Hwang S (2026). [PMID: 41152456](https://pubmed.ncbi.nlm.nih.gov/41152456/). *J Hum Genet*. [Diagnostic / Biomarker]
Eşdoğan A (2026). [PMID: 41699239](https://pubmed.ncbi.nlm.nih.gov/41699239/). *Eur Arch Otorhinolaryngol*. [Basic Science / Preclinical]
Tarango-García A (2026). [PMID: 41730804](https://pubmed.ncbi.nlm.nih.gov/41730804/). *Scand J Immunol*. [Review / Meta-Analysis]
Alhashmi M (2025). [PMID: 39865089](https://pubmed.ncbi.nlm.nih.gov/39865089/). *Bone Res*. [Epidemiology / Natural History]
Rasmussen NB (2025). [PMID: 40441421](https://pubmed.ncbi.nlm.nih.gov/40441421/). *Eur J Med Genet*. [Clinical Trial Publication]
Johnston AN (2025). [PMID: 40368649](https://pubmed.ncbi.nlm.nih.gov/40368649/). *Vet Clin North Am Small Anim Pract*. [Review / Meta-Analysis]