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

Rare Disease

tetraploidy syndrome

MONDO:0018026

Also known as:tetraploidy

Overview

The presence of four sets of chromosomes. It is associated with abnormalities, multiple; and miscarrages.

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, Convex nasal ridge, Intrauterine growth retardation, and Abnormality of chromosome segregation and others; and common findings: Short philtrum, Micrognathia, Radial ray deficiency, and Hypoplasia of the ear cartilage. 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	2	Cleft palate, Microcephaly

Diagnosis

Biomarker and diagnostic research for tetraploidy syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 very common features, 4 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 tetraploidy syndrome.

110 publications have been identified in PubMed for tetraploidy syndrome. Research spans Basic Science / Preclinical (82%), Review / Meta-Analysis (7%), and Epidemiology / Natural History (5%).

Research Type	Count	% of Total
Laboratory research	90	82%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 6:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:3305

GARD

Genetic and Rare Diseases Info Center

GARD:5151

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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Kisho

tetraploidy syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

tetraploidy syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications