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chromosome 17P13.3, telomeric, duplication syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

chromosome 17P13.3, telomeric, duplication syndrome

MONDO:0012944

Also known as:split-hand/foot malformation with long bone deficiency 3

Overview

GeneticsAutosomal dominant

ResearchLimited published research (3 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: Brachydactyly, Split hand, Contracture of the proximal interphalangeal joint of the 4th finger, and Short tibia; and sometimes findings: 3-4 finger cutaneous syndactyly, Talipes equinovarus, Short metacarpal, and Camptodactyly and others. 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	8	3-4 finger cutaneous syndactyly, Split hand, Contracture of the proximal interphalangeal joint of the 3rd finger

Prognosis

Phenotype severity distribution: 4 common features.

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, telomeric, duplication syndrome.

3 publications have been identified in PubMed for chromosome 17P13.3, telomeric, duplication syndrome. Research spans Review / Meta-Analysis (67%) and Case Report / Case Series (33%).

Recent Publications

Ji X (2025). [PMID: 40390087](https://pubmed.ncbi.nlm.nih.gov/40390087/). *BMC Med Genomics*. [Review / Meta-Analysis]
Querter I (2025). [PMID: 40642416](https://pubmed.ncbi.nlm.nih.gov/40642416/). *Front Psychiatry*. [Case Report / Case Series]
van Kampen F (2025). [PMID: 39966556](https://pubmed.ncbi.nlm.nih.gov/39966556/). *Oncogene*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 8:43 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612576

GARD

Genetic and Rare Diseases Info Center

GARD:15572

Questions for Your Care Team

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chromosome 17P13.3, telomeric, duplication syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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