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tetrasomy 18p - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

tetrasomy 18p

MONDO:0013668

Also known as:Isochromosome 18ptetrasomy type 18PIsochromosome 18P syndrome

Overview

Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations.

ResearchLimited published research (5 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, Abnormality of the face, Long philtrum, and Abnormality of neuronal migration; and common findings: Epicanthus and Posteriorly rotated ears. 18 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	3	Microcephaly, Abnormality of the face, Facial asymmetry

Prognosis

Phenotype severity distribution: 4 very common features, 2 common features.

Estimated prevalence: 1-9 in 1,000,000 (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 tetrasomy 18p.

5 publications have been identified in PubMed for tetrasomy 18p. Research spans Case Report / Case Series (40%), Epidemiology / Natural History (40%), and Other (20%).

Recent Publications

Deng G (2026). [PMID: 41658620](https://pubmed.ncbi.nlm.nih.gov/41658620/). *Front Med (Lausanne)*. [Case Report / Case Series]
Deng G (2026). [PMID: 41816656](https://pubmed.ncbi.nlm.nih.gov/41816656/). *Front Med (Lausanne)*. [Other]
Allegri B (2025). [PMID: 40001201](https://pubmed.ncbi.nlm.nih.gov/40001201/). *Ital J Pediatr*. [Epidemiology / Natural History]
Ardisia C (2024). [PMID: 39596664](https://pubmed.ncbi.nlm.nih.gov/39596664/). *Genes (Basel)*. [Case Report / Case Series]
Jiang X (2024). [PMID: 39026136](https://pubmed.ncbi.nlm.nih.gov/39026136/). *Chromosome Res*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:43 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614290

Orphanet

European rare disease database

Orphanet:3307

GARD

Genetic and Rare Diseases Info Center

GARD:35

Questions for Your Care Team

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tetrasomy 18p

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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