Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.
Biomarker and diagnostic research for spondyloepiphyseal dysplasia tarda, Kohn type has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for spondyloepiphyseal dysplasia tarda, Kohn type.
21 publications have been identified in PubMed for spondyloepiphyseal dysplasia tarda, Kohn type. Research spans Case Report / Case Series (48%), Basic Science / Preclinical (29%), and Review / Meta-Analysis (14%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 10 | 48% |
Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 1:43 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Laboratory research
6 |
29% |
Research summaries | 3 | 14% |
Testing and diagnosis research | 1 | 5% |
Disease patterns and progression | 1 | 5% |
Leitão E (2026). [PMID: 41912934](https://pubmed.ncbi.nlm.nih.gov/41912934/). *Nat Genet*. [Review / Meta-Analysis]
Valientes SDA (2026). [PMID: 41751561](https://pubmed.ncbi.nlm.nih.gov/41751561/). *Genes (Basel)*. [Case Report / Case Series]
Güneş N (2026). [PMID: 42151490](https://pubmed.ncbi.nlm.nih.gov/42151490/). *Eur J Pediatr*. [Basic Science / Preclinical]
Halis M (2026). [PMID: 41549465](https://pubmed.ncbi.nlm.nih.gov/41549465/). *J Pediatr Endocrinol Metab*. [Case Report / Case Series]
Abdel-Hamid MS (2025). [PMID: 40119123](https://pubmed.ncbi.nlm.nih.gov/40119123/). *J Hum Genet*. [Epidemiology / Natural History]
Reyes-Silva C (2025). [PMID: 40428312](https://pubmed.ncbi.nlm.nih.gov/40428312/). *Genes (Basel)*. [Case Report / Case Series]
Della Libera L (2025). [PMID: 40789540](https://pubmed.ncbi.nlm.nih.gov/40789540/). *J Mol Biol*. [Basic Science / Preclinical]
AlFaris B (2025). [PMID: 39667299](https://pubmed.ncbi.nlm.nih.gov/39667299/). *Brain Dev*. [Diagnostic / Biomarker]
Pekpak Şahinoğlu E (2025). [PMID: 39853520](https://pubmed.ncbi.nlm.nih.gov/39853520/). *Eur J Pediatr*. [Basic Science / Preclinical]
Bruselles A (2025). [PMID: 40011755](https://pubmed.ncbi.nlm.nih.gov/40011755/). *Eur J Hum Genet*. [Basic Science / Preclinical]