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An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections.
Biomarker and diagnostic research for Sakati-Nyhan syndrome has been reported in the published literature.
1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
175 publications have been identified in PubMed for Sakati-Nyhan syndrome. Research spans Review / Meta-Analysis (49%), Basic Science / Preclinical (21%), and Epidemiology / Natural History (9%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 86 | 49% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:07 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Sakati-Nyhan syndrome
Laboratory research |
36 |
21% |
Disease patterns and progression | 15 | 9% |
Patient case studies | 14 | 8% |
Other research | 10 | 6% |
Testing and diagnosis research | 7 | 4% |
Clinical study results | 5 | 3% |
New treatment approaches | 2 | 1% |
Anderson EN (2026). [PMID: 41468891](https://pubmed.ncbi.nlm.nih.gov/41468891/). *American journal of human genetics*. [Basic Science / Preclinical]
Alhodaif H (2026). [PMID: 41902420](https://pubmed.ncbi.nlm.nih.gov/41902420/). *Mov Disord*. [Clinical Trial Publication]
Amado C (2026). [PMID: 40975490](https://pubmed.ncbi.nlm.nih.gov/40975490/). *Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology*. [Basic Science / Preclinical]
Tresa V (2026). [PMID: 41769584](https://pubmed.ncbi.nlm.nih.gov/41769584/). *Cureus*. [Basic Science / Preclinical]
Sartorelli J (2026). [PMID: 41833177](https://pubmed.ncbi.nlm.nih.gov/41833177/). *Molecular genetics and metabolism*. [Gene Therapy / Novel Therapeutics]
Qiu XY (2026). [PMID: 41667297](https://pubmed.ncbi.nlm.nih.gov/41667297/). *J Integr Med*. [Review / Meta-Analysis]
Ferri C (2026). [PMID: 41798958](https://pubmed.ncbi.nlm.nih.gov/41798958/). *Front Immunol*. [Review / Meta-Analysis]
Qadir A (2026). [PMID: 41817659](https://pubmed.ncbi.nlm.nih.gov/41817659/). *Clin Dysmorphol*. [Basic Science / Preclinical]
Baigh ZH (2026). [PMID: 42255876](https://pubmed.ncbi.nlm.nih.gov/42255876/). *Cureus*. [Case Report / Case Series]
Lee S (2026). [PMID: 41206258](https://pubmed.ncbi.nlm.nih.gov/41206258/). *Am J Geriatr Psychiatry*. [Review / Meta-Analysis]