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Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly.
Features include: Dextrocardia, Unilateral absence of pectoralis major muscle, Absence of pectoralis minor muscle, and Unilateral hypoplasia of pectoralis major muscle and 11 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Muscles | 6 | Unilateral absence of pectoralis major muscle, Absence of pectoralis minor muscle, Unilateral hypoplasia of pectoralis major muscle |
Biomarker and diagnostic research for Poland syndrome has been reported in the published literature.
Estimated prevalence: 1-9 in 100,000 (Uncommon).
1 clinical trial registered, 1 recruiting. Interventions under study include medical devices. Pipeline includes 1 NA. Research is primarily industry-sponsored.
42 publications have been identified in PubMed for Poland syndrome. Kisho has analyzed 25 by research type. Research spans Case Report / Case Series (56%), Review / Meta-Analysis (24%), and Clinical Trial Publication (8%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 14 | 56% |
Data assembled from 6 of 12 sources · Last updated Oct 3, 2026, 4:57 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Poland syndrome
Breast |
1 |
Abnormality of the breast |
Research summaries |
6 |
24% |
Clinical study results | 2 | 8% |
Other research | 1 | 4% |
Testing and diagnosis research | 1 | 4% |
Disease patterns and progression | 1 | 4% |
Arias K (2026). [PMID: 41626619](https://pubmed.ncbi.nlm.nih.gov/41626619/). *Urol Case Rep*. [Case Report / Case Series]
Cool D (2026). [PMID: 40987745](https://pubmed.ncbi.nlm.nih.gov/40987745/). *Ophthalmic Genet*. [Case Report / Case Series]
Perla G (2025). [PMID: 40167071](https://pubmed.ncbi.nlm.nih.gov/40167071/). *Ann Plast Surg*. [Review / Meta-Analysis]
Patel GS (2025). [PMID: 41426815](https://pubmed.ncbi.nlm.nih.gov/41426815/). *Cureus*. [Case Report / Case Series]
Yeh JP (2025). [PMID: 37516941](https://pubmed.ncbi.nlm.nih.gov/37516941/). *J Hand Surg Am*. [Epidemiology / Natural History]
Grande PK (2025). [PMID: 39818015](https://pubmed.ncbi.nlm.nih.gov/39818015/). *J Plast Reconstr Aesthet Surg*. [Review / Meta-Analysis]
Poudel S (2025). [PMID: 39559497](https://pubmed.ncbi.nlm.nih.gov/39559497/). *Radiol Case Rep*. [Case Report / Case Series]
Mohan VC (2025). [PMID: 40406639](https://pubmed.ncbi.nlm.nih.gov/40406639/). *Semin Plast Surg*. [Review / Meta-Analysis]
Elsaftawy A (2025). [PMID: 40881249](https://pubmed.ncbi.nlm.nih.gov/40881249/). *Plast Reconstr Surg Glob Open*. [Case Report / Case Series]
Myatt GD (2025). [PMID: 41403868](https://pubmed.ncbi.nlm.nih.gov/41403868/). *Ochsner J*. [Case Report / Case Series]