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Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983.
Biomarker and diagnostic research for Lowe-Kohn-Cohen syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Lowe-Kohn-Cohen syndrome.
279 publications have been identified in PubMed for Lowe-Kohn-Cohen syndrome. Kisho has analyzed 163 by research type. Research spans Review / Meta-Analysis (61%), Basic Science / Preclinical (15%), and Case Report / Case Series (10%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 99 | 61% |
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 1:46 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Lowe-Kohn-Cohen syndrome
Laboratory research
24 |
15% |
Patient case studies | 17 | 10% |
Disease patterns and progression | 12 | 7% |
Other research | 5 | 3% |
Testing and diagnosis research | 4 | 2% |
Clinical study results | 2 | 1% |
Buel KL (2026). [PMID: 41569909](https://pubmed.ncbi.nlm.nih.gov/41569909/). *FP Essent*. [Review / Meta-Analysis]
Avelino-Silva TJ (2026). [PMID: 41591773](https://pubmed.ncbi.nlm.nih.gov/41591773/). *JAMA Netw Open*. [Epidemiology / Natural History]
Anandan S (2026). [PMID: 41818118](https://pubmed.ncbi.nlm.nih.gov/41818118/). *J Assoc Physicians India*. [Case Report / Case Series]
Uhlenbusch N (2026). [PMID: 41623132](https://pubmed.ncbi.nlm.nih.gov/41623132/). *Liver Int*. [Epidemiology / Natural History]
Anderson EN (2026). [PMID: 41468891](https://pubmed.ncbi.nlm.nih.gov/41468891/). *American journal of human genetics*. [Basic Science / Preclinical]
Asghar E (2026). [PMID: 41401403](https://pubmed.ncbi.nlm.nih.gov/41401403/). *Ocul Immunol Inflamm*. [Review / Meta-Analysis]
Papazachariou A (2026). [PMID: 41128447](https://pubmed.ncbi.nlm.nih.gov/41128447/). *Curr Opin Clin Nutr Metab Care*. [Review / Meta-Analysis]
Lee S (2026). [PMID: 41206258](https://pubmed.ncbi.nlm.nih.gov/41206258/). *Am J Geriatr Psychiatry*. [Review / Meta-Analysis]
Aguilar AA (2026). [PMID: 41758717](https://pubmed.ncbi.nlm.nih.gov/41758717/). *AACN Adv Crit Care*. [Review / Meta-Analysis]
Sebode M (2026). [PMID: 41432137](https://pubmed.ncbi.nlm.nih.gov/41432137/). *Current opinion in gastroenterology*. [Review / Meta-Analysis]