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Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Singleton-Merten dysplasia.
10 publications have been identified in PubMed for Singleton-Merten dysplasia. Research spans Case Report / Case Series (50%), Basic Science / Preclinical (40%), and Other (10%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 5 | 50% |
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 12:17 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Singleton-Merten dysplasia
4 |
40% |
Other research | 1 | 10% |
Arshad H (2026). [PMID: 41536870](https://pubmed.ncbi.nlm.nih.gov/41536870/). *Radiol Case Rep*. [Case Report / Case Series]
Belyaeva A (2025). [PMID: 40106038](https://pubmed.ncbi.nlm.nih.gov/40106038/). *Hum Cell*. [Basic Science / Preclinical]
Hsu EE (2025). [PMID: 40913606](https://pubmed.ncbi.nlm.nih.gov/40913606/). *J Allergy Clin Immunol*. [Other]
Friedman C (2025). [PMID: 40197712](https://pubmed.ncbi.nlm.nih.gov/40197712/). *Spec Care Dentist*. [Case Report / Case Series]
Yamazaki S (2025). [PMID: 40116369](https://pubmed.ncbi.nlm.nih.gov/40116369/). *Immunol Med*. [Case Report / Case Series]
Peng S (2025). [PMID: 41467011](https://pubmed.ncbi.nlm.nih.gov/41467011/). *Fundam Res*. [Basic Science / Preclinical]
Beerepoot S (2025). [PMID: 40176112](https://pubmed.ncbi.nlm.nih.gov/40176112/). *Orphanet J Rare Dis*. [Case Report / Case Series]
Miller CM (2025). [PMID: 40693792](https://pubmed.ncbi.nlm.nih.gov/40693792/). *mBio*. [Basic Science / Preclinical]
Pervunina TM (2025). [PMID: 40406050](https://pubmed.ncbi.nlm.nih.gov/40406050/). *Front Cardiovasc Med*. [Case Report / Case Series]
Huang X (2024). [PMID: 38752537](https://pubmed.ncbi.nlm.nih.gov/38752537/). *FASEB J*. [Basic Science / Preclinical]