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distal trisomy 17q - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

distal trisomy 17q

MONDO:0018069

Also known as:distal duplication 17qdistal trisomy type 17qtelomeric duplication 17q

Overview

Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated.

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 very common findings: Global developmental delay and Severe intellectual disability; and common findings: Cryptorchidism, Vesicoureteral reflux, Wide mouth, and Cleft palate and others. 42 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Global developmental delay, Severe intellectual disability, Depressed nasal bridge

Prognosis

Phenotype severity distribution: 2 very common features, 27 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 17q.

3 publications have been identified in PubMed for distal trisomy 17q. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

Lu J (2025). [PMID: 40008001](https://pubmed.ncbi.nlm.nih.gov/40008001/). *Front Oncol*. [Basic Science / Preclinical]
Militaru MS (2024). [PMID: 39064028](https://pubmed.ncbi.nlm.nih.gov/39064028/). *J Pers Med*. [Review / Meta-Analysis]
Zheng H (2024). [PMID: 39619310](https://pubmed.ncbi.nlm.nih.gov/39619310/). *Clin Case Rep*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 12:04 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:3379

GARD

Genetic and Rare Diseases Info Center

GARD:18794

Questions for Your Care Team

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distal trisomy 17q

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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