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Features include: Bell-shaped thorax, Disproportionate short-limb short stature, and Short ribs.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Growth and development | 1 | Disproportionate short-limb short stature |
Arms and legs |
Biomarker and diagnostic research for thoracomelic dysplasia has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for thoracomelic dysplasia.
122 publications have been identified in PubMed for thoracomelic dysplasia. Research spans Review / Meta-Analysis (69%), Basic Science / Preclinical (15%), and Other (5%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 84 | 69% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:54 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
1
Disproportionate short-limb short stature |
18 |
15% |
Other research | 6 | 5% |
Patient case studies | 5 | 4% |
Disease patterns and progression | 5 | 4% |
Testing and diagnosis research | 3 | 2% |
Clinical study results | 1 | 1% |
Papazachariou A (2026). [PMID: 41128447](https://pubmed.ncbi.nlm.nih.gov/41128447/). *Curr Opin Clin Nutr Metab Care*. [Review / Meta-Analysis]
Anderson EN (2026). [PMID: 41468891](https://pubmed.ncbi.nlm.nih.gov/41468891/). *Am J Hum Genet*. [Basic Science / Preclinical]
Amado C (2026). [PMID: 40975490](https://pubmed.ncbi.nlm.nih.gov/40975490/). *Ann Allergy Asthma Immunol*. [Review / Meta-Analysis]
Lee S (2026). [PMID: 41206258](https://pubmed.ncbi.nlm.nih.gov/41206258/). *Am J Geriatr Psychiatry*. [Review / Meta-Analysis]
Sahoo SS (2025). [PMID: 39475954](https://pubmed.ncbi.nlm.nih.gov/39475954/). *Blood*. [Review / Meta-Analysis]
Dotan A (2025). [PMID: 39931017](https://pubmed.ncbi.nlm.nih.gov/39931017/). *Harefuah*. [Review / Meta-Analysis]
Pignataro G (2025). [PMID: 41010942](https://pubmed.ncbi.nlm.nih.gov/41010942/). *Medicina (Kaunas)*. [Review / Meta-Analysis]
Walther LE (2025). [PMID: 40192781](https://pubmed.ncbi.nlm.nih.gov/40192781/). *HNO*. [Review / Meta-Analysis]
Shabshin G (2025). [PMID: 40261331](https://pubmed.ncbi.nlm.nih.gov/40261331/). *Orthopadie (Heidelb)*. [Review / Meta-Analysis]
McKeown W (2025). [PMID: 40714195](https://pubmed.ncbi.nlm.nih.gov/40714195/). *J Thromb Haemost*. [Review / Meta-Analysis]