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

chromosome 16p13.3 deletion syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

chromosome 16p13.3 deletion syndrome

MONDO:0022752

Also known as:RSTS, SevereRubinstein-Taybi syndrome, Severe

Overview

ResearchLimited published research (6 articles)

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 chromosome 16p13.3 deletion syndrome.

6 publications have been identified in PubMed for chromosome 16p13.3 deletion syndrome. Research spans Case Report / Case Series (67%), Basic Science / Preclinical (17%), and Epidemiology / Natural History (17%).

Recent Publications

Akiba T (2026). [PMID: 41727759](https://pubmed.ncbi.nlm.nih.gov/41727759/). *Front Pediatr*. [Case Report / Case Series]
Zhuang J (2025). [PMID: 40684108](https://pubmed.ncbi.nlm.nih.gov/40684108/). *BMC Pregnancy Childbirth*. [Epidemiology / Natural History]
Tamaru H (2025). [PMID: 41317128](https://pubmed.ncbi.nlm.nih.gov/41317128/). *Congenit Anom (Kyoto)*. [Case Report / Case Series]
Krutish A (2025). [PMID: 40458561](https://pubmed.ncbi.nlm.nih.gov/40458561/). *Front Genet*. [Case Report / Case Series]
Mazel B (2025). [PMID: 40721525](https://pubmed.ncbi.nlm.nih.gov/40721525/). *Eur J Hum Genet*. [Basic Science / Preclinical]
Jajodia E (2024). [PMID: 38990295](https://pubmed.ncbi.nlm.nih.gov/38990295/). *Ann Hematol*. [Case Report / Case Series]

Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 9:43 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

chromosome 16p13.3 deletion syndrome

Overview

Research Landscape

Recent Publications

Medical References

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team