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

Rare Disease

chromosome 16p13.3 duplication syndrome

MONDO:0013273

Also known as:16p13.3 microduplication syndromechromosome 16p13.3 duplication syndrome, isolated casesdistal duplication 16p

Overview

16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems.

GeneticsSporadic (not inherited), Autosomal dominant

ResearchLimited published research (6 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: Proximal placement of thumb, Global developmental delay, Camptodactyly, and Sandal gap and others; and sometimes findings: Epicanthus, Tented upper lip vermilion, Short nose, and Low muscle tone (hypotonia) and others. 69 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	4	Tented upper lip vermilion, Facial hypotonia, Thin upper lip vermilion

Diagnosis

Biomarker and diagnostic research for chromosome 16p13.3 duplication syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 7 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 16p13.3 duplication syndrome.

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

Recent Publications

Chaisrisawadisuk S (2026). [PMID: 41609211](https://pubmed.ncbi.nlm.nih.gov/41609211/). *J Craniofac Surg*. [Case Report / Case Series]
Krutish A (2025). [PMID: 40458561](https://pubmed.ncbi.nlm.nih.gov/40458561/). *Front Genet*. [Case Report / Case Series]
Zhuang J (2025). [PMID: 40684108](https://pubmed.ncbi.nlm.nih.gov/40684108/). *BMC Pregnancy Childbirth*. [Epidemiology / Natural History]
Lee MA (2025). [PMID: 41041480](https://pubmed.ncbi.nlm.nih.gov/41041480/). *Cureus*. [Case Report / Case Series]
Chen Y (2025). [PMID: 41073961](https://pubmed.ncbi.nlm.nih.gov/41073961/). *BMC Pregnancy Childbirth*. [Diagnostic / Biomarker]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:56 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613458

Orphanet

European rare disease database

Orphanet:96078

GARD

Genetic and Rare Diseases Info Center

GARD:10755

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 duplication syndrome

Overview

Clinical Presentation

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

Explore clinical features