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Radial ray hypoplasia - choanal atresia is an extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus.
Features include: Choanal atresia, Small thenar eminence, Choanal stenosis, and Distally placed thumb and 4 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 1 | Depressed nasal bridge |
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for radial ray hypoplasia-choanal atresia syndrome.
110 publications have been identified in PubMed for radial ray hypoplasia-choanal atresia syndrome. Kisho has analyzed 82 by research type. Research spans Review / Meta-Analysis (63%), Basic Science / Preclinical (18%), and Case Report / Case Series (10%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 52 | 63% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:35 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Laboratory research |
15 |
18% |
Patient case studies | 8 | 10% |
Disease patterns and progression | 7 | 9% |
Anderson EN (2026). [PMID: 41468891](https://pubmed.ncbi.nlm.nih.gov/41468891/). *Am J Hum Genet*. [Basic Science / Preclinical]
Sampath Kumar D (2026). [PMID: 41782702](https://pubmed.ncbi.nlm.nih.gov/41782702/). *Clin Nephrol Case Stud*. [Case Report / Case Series]
Ünver G (2026). [PMID: 41841538](https://pubmed.ncbi.nlm.nih.gov/41841538/). *Ceska gynekologie*. [Review / Meta-Analysis]
Suboh MW (2026). [PMID: 41963863](https://pubmed.ncbi.nlm.nih.gov/41963863/). *BMC Pediatr*. [Case Report / Case Series]
Papazachariou A (2026). [PMID: 41128447](https://pubmed.ncbi.nlm.nih.gov/41128447/). *Curr Opin Clin Nutr Metab Care*. [Review / Meta-Analysis]
Fann Marko R (2025). [PMID: 39987477](https://pubmed.ncbi.nlm.nih.gov/39987477/). *Harefuah*. [Review / Meta-Analysis]
Agrawal R (2025). [PMID: 40200630](https://pubmed.ncbi.nlm.nih.gov/40200630/). *J Assoc Physicians India*. [Review / Meta-Analysis]
Hartung KJ (2025). [PMID: 40736853](https://pubmed.ncbi.nlm.nih.gov/40736853/). *Adv Exp Med Biol*. [Review / Meta-Analysis]
Sánchez-Camacho A (2025). [PMID: 40406130](https://pubmed.ncbi.nlm.nih.gov/40406130/). *Front Immunol*. [Review / Meta-Analysis]
Stoll C (2025). [PMID: 39315659](https://pubmed.ncbi.nlm.nih.gov/39315659/). *American journal of medical genetics. Part A*. [Epidemiology / Natural History]