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Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome.
21 publications have been identified in PubMed for autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome. Kisho has analyzed 13 by research type. Research spans Case Report / Case Series (54%), Review / Meta-Analysis (31%), and Clinical Trial Publication (8%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 7 |
Data assembled from 3 of 12 sources · Last updated Sep 21, 2026, 12:39 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
54%
Research summaries | 4 | 31% |
Clinical study results | 1 | 8% |
Laboratory research | 1 | 8% |
Bremond-Gignac D (2026). [PMID: 41455383](https://pubmed.ncbi.nlm.nih.gov/41455383/). *J Fr Ophtalmol*. [Review / Meta-Analysis]
Sampath Kumar D (2026). [PMID: 41782702](https://pubmed.ncbi.nlm.nih.gov/41782702/). *Clin Nephrol Case Stud*. [Case Report / Case Series]
Çordan İ (2026). [PMID: 42017099](https://pubmed.ncbi.nlm.nih.gov/42017099/). *Cureus*. [Case Report / Case Series]
Yuan YY (2025). [PMID: 40010783](https://pubmed.ncbi.nlm.nih.gov/40010783/). *Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi*. [Clinical Trial Publication]
Chen Y (2025). [PMID: 40850800](https://pubmed.ncbi.nlm.nih.gov/40850800/). *Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi*. [Case Report / Case Series]
Pan S (2025). [PMID: 39505798](https://pubmed.ncbi.nlm.nih.gov/39505798/). *Endocrine*. [Case Report / Case Series]
Curtis SW (2025). [PMID: 41172132](https://pubmed.ncbi.nlm.nih.gov/41172132/). *Hum Mol Genet*. [Basic Science / Preclinical]
Yi J (2025). [PMID: 40877988](https://pubmed.ncbi.nlm.nih.gov/40877988/). *J Med Case Rep*. [Review / Meta-Analysis]
Al-Bustanji R (2025). [PMID: 41305774](https://pubmed.ncbi.nlm.nih.gov/41305774/). *Medicine (Baltimore)*. [Case Report / Case Series]
Ssemmondo E (2024). [PMID: 40060978](https://pubmed.ncbi.nlm.nih.gov/40060978/). *Oman Med J*. [Case Report / Case Series]