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trisomy 9p - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

trisomy 9p

MONDO:0016526

Also known as:9p duplication9p trisomyDuplication 9p

Overview

Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations.

ResearchLimited published research (7 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: Brachycephaly, Microcephaly, Macrotia, and Protruding ear and others; and common findings: Hypertelorism, Downslanted palpebral fissures, Dental crowding, and Sacral dimple and others. 27 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	4	Hypoplastic toenails, Hypoplastic fingernail, Clinodactyly of the 5th finger

Diagnosis

Biomarker and diagnostic research for trisomy 9p has been reported in the published literature.

Prognosis

Phenotype severity distribution: 15 very common features, 11 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 trisomy 9p.

7 publications have been identified in PubMed for trisomy 9p. Research spans Basic Science / Preclinical (43%), Case Report / Case Series (29%), and Diagnostic / Biomarker (14%).

Recent Publications

Azher Z (2026). [PMID: 42260830](https://pubmed.ncbi.nlm.nih.gov/42260830/). *Medicine (Baltimore)*. [Case Report / Case Series]
Wright CA (2025). [PMID: 39924478](https://pubmed.ncbi.nlm.nih.gov/39924478/). *Mol Cytogenet*. [Basic Science / Preclinical]
Mohamed AM (2025). [PMID: 40074450](https://pubmed.ncbi.nlm.nih.gov/40074450/). *J Genet Eng Biotechnol*. [Diagnostic / Biomarker]
Maeda K (2025). [PMID: 39343574](https://pubmed.ncbi.nlm.nih.gov/39343574/). *Intern Med*. [Case Report / Case Series]
Ming S (2024). [PMID: 39612314](https://pubmed.ncbi.nlm.nih.gov/39612314/). *J Int Med Res*. [Review / Meta-Analysis]
Carretta C (2024). [PMID: 39179669](https://pubmed.ncbi.nlm.nih.gov/39179669/). *Leukemia*. [Basic Science / Preclinical]

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 2:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:236 Orphanet:262767

GARD

Genetic and Rare Diseases Info Center

GARD:18683

Questions for Your Care Team

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trisomy 9p

Overview

Clinical Presentation

Diagnosis

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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