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chromosome 17p13.3 duplication syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

chromosome 17p13.3 duplication syndrome

MONDO:0013182

Also known as:17p13.3 duplication syndrome17p13.3 microduplication syndromechromosome 17p13.3 centromeric duplication syndrome

Overview

17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.

GeneticsAutosomal dominant

OnsetINFANTILE

ResearchLimited published research (4 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include common findings: Low muscle tone (hypotonia), Thin upper lip vermilion, Low hanging columella, and Global developmental delay and others; and sometimes findings: Upslanted palpebral fissure, Large hands, Strabismus, and Short stature and others.

Organ System	Phenotype Count	Example Features
Head and neck	7	Sagittal craniosynostosis, Thin upper lip vermilion, High palate

Prognosis

Phenotype severity distribution: 5 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 17p13.3 duplication syndrome.

4 publications have been identified in PubMed for chromosome 17p13.3 duplication syndrome. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (25%).

Recent Publications

Ji X (2025). [PMID: 40390087](https://pubmed.ncbi.nlm.nih.gov/40390087/). *BMC medical genomics*. [Review / Meta-Analysis]
Kim SY (2025). [PMID: 39513527](https://pubmed.ncbi.nlm.nih.gov/39513527/). *American journal of medical genetics. Part A*. [Case Report / Case Series]
Lee AJ (2025). [PMID: 40140366](https://pubmed.ncbi.nlm.nih.gov/40140366/). *Human genome variation*. [Basic Science / Preclinical]
Querter I (2025). [PMID: 40642416](https://pubmed.ncbi.nlm.nih.gov/40642416/). *Frontiers in psychiatry*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613215

Orphanet

European rare disease database

Orphanet:217385

GARD

Genetic and Rare Diseases Info Center

GARD:17122

Questions for Your Care Team

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chromosome 17p13.3 duplication syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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