Kisho

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

temtamy syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Mild intellectual disability, Seizure, Enlarged brain ventricles (ventriculomegaly)
Heart and blood vessels	2	Aortic regurgitation, Aortic aneurysm
Muscles	1	Low muscle tone (hypotonia)
Arms and legs	1	Short 2nd toe
Head and neck	1	Long face
Eyes	1	Lens luxation

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for temtamy syndrome.

22 publications have been identified in PubMed for temtamy syndrome. Research spans Case Report / Case Series (59%), Review / Meta-Analysis (23%), and Epidemiology / Natural History (9%).

Research Type	Count	% of Total
Patient case studies	13	59%
Research summaries	5	23%
Disease patterns and progression	2	9%
Testing and diagnosis research	1	5%
Laboratory research	1	5%

Recent Publications

El Fid K (2026). [PMID: 42003052](https://pubmed.ncbi.nlm.nih.gov/42003052/). *Pediatr Dermatol*. [Case Report / Case Series]
Zhang Y (2026). [PMID: 41727761](https://pubmed.ncbi.nlm.nih.gov/41727761/). *Front Pediatr*. [Case Report / Case Series]
Kerkeni N (2026). [PMID: 41556146](https://pubmed.ncbi.nlm.nih.gov/41556146/). *Birth Defects Res*. [Case Report / Case Series]
Warmoeskerken T (2026). [PMID: 41821414](https://pubmed.ncbi.nlm.nih.gov/41821414/). *Am J Med Genet A*. [Case Report / Case Series]
Kubiszewski H (2026). [PMID: 41904990](https://pubmed.ncbi.nlm.nih.gov/41904990/). *Adv Clin Exp Med*. [Review / Meta-Analysis]
Kayhan G (2026). [PMID: 41751633](https://pubmed.ncbi.nlm.nih.gov/41751633/). *Genes (Basel)*. [Epidemiology / Natural History]
Papaioannou E (2026). [PMID: 42238158](https://pubmed.ncbi.nlm.nih.gov/42238158/). *Cureus*. [Case Report / Case Series]
Löbel U (2025). [PMID: 39393841](https://pubmed.ncbi.nlm.nih.gov/39393841/). *AJNR Am J Neuroradiol*. [Diagnostic / Biomarker]
da Silva Campos TA (2025). [PMID: 40751225](https://pubmed.ncbi.nlm.nih.gov/40751225/). *J Med Case Rep*. [Case Report / Case Series]
Xue S (2025). [PMID: 41240171](https://pubmed.ncbi.nlm.nih.gov/41240171/). *Mol Biol Rep*. [Case Report / Case Series]

Kisho

temtamy syndrome

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

temtamy syndrome

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team