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distal trisomy 5q - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

distal trisomy 5q

MONDO:0019880

Also known as:distal duplication 5qdistal trisomy type 5qtelomeric duplication 5q

Overview

Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism).

ResearchLimited published research (2 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 very common findings: Microcephaly and Short stature; and common findings: Cryptorchidism, Hypospadias, Narrow mouth, and Thin vermilion border and others. 30 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	3	Microcephaly, Craniosynostosis, Flat face

Prognosis

Phenotype severity distribution: 2 very common features, 23 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 distal trisomy 5q.

2 publications have been identified in PubMed for distal trisomy 5q. Research spans Review / Meta-Analysis (50%) and Epidemiology / Natural History (50%).

Recent Publications

Yasin I (2026). [PMID: 41417597](https://pubmed.ncbi.nlm.nih.gov/41417597/). *Cancer*. [Epidemiology / Natural History]
Testa U (2025). [PMID: 41440765](https://pubmed.ncbi.nlm.nih.gov/41440765/). *Hematol Rep*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 5:45 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:96097

GARD

Genetic and Rare Diseases Info Center

GARD:19313

Questions for Your Care Team

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distal trisomy 5q

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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