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Short rib-polydactyly syndromes are a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial).
Biomarker and diagnostic research for short rib-polydactyly syndrome has been reported in the published literature.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for short rib-polydactyly syndrome.
14 publications have been identified in PubMed for short rib-polydactyly syndrome. Research spans Case Report / Case Series (43%), Basic Science / Preclinical (29%), and Epidemiology / Natural History (14%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 6 | 43% |
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 4:48 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Laboratory research
4 |
29% |
Disease patterns and progression | 2 | 14% |
Testing and diagnosis research | 1 | 7% |
New treatment approaches | 1 | 7% |
Li C (2026). [PMID: 42067505](https://pubmed.ncbi.nlm.nih.gov/42067505/). *J Clin Ultrasound*. [Case Report / Case Series]
Xiong S (2025). [PMID: 39881416](https://pubmed.ncbi.nlm.nih.gov/39881416/). *Hereditas*. [Case Report / Case Series]
Pattani N (2025). [PMID: 40250984](https://pubmed.ncbi.nlm.nih.gov/40250984/). *Journal of medical genetics*. [Epidemiology / Natural History]
Haïm D (2025). [PMID: 39955445](https://pubmed.ncbi.nlm.nih.gov/39955445/). *European journal of human genetics : EJHG*. [Basic Science / Preclinical]
Sezer A (2025). [PMID: 40615527](https://pubmed.ncbi.nlm.nih.gov/40615527/). *European journal of human genetics : EJHG*. [Gene Therapy / Novel Therapeutics]
Kirov GS (2025). [PMID: 40749718](https://pubmed.ncbi.nlm.nih.gov/40749718/). *Zeitschrift fur Geburtshilfe und Neonatologie*. [Case Report / Case Series]
Ak B (2025). [PMID: 40339774](https://pubmed.ncbi.nlm.nih.gov/40339774/). *Bone*. [Basic Science / Preclinical]
Porto Vasconcelos A (2025). [PMID: 39361243](https://pubmed.ncbi.nlm.nih.gov/39361243/). *Annals of human genetics*. [Basic Science / Preclinical]
Gruca-Stryjak K (2025). [PMID: 40147672](https://pubmed.ncbi.nlm.nih.gov/40147672/). *Bone*. [Epidemiology / Natural History]
Zhang C (2025). [PMID: 41230591](https://pubmed.ncbi.nlm.nih.gov/41230591/). *Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics*. [Case Report / Case Series]