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triploidy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

triploidy

MONDO:0018067

Also known as:chromosome triploidy syndrometriploid syndrometriploidy syndrome

Overview

Triploidy is a chromosome abnormality that occurs when there is an extra set of chromosomes present in each cell. Most pregnancies affected by triploidy are lost through early miscarriage. However, reports exist of some affected babies living up to five months. Those that survive are often mosaic. The signs and symptoms associated with triploidy vary but may include a variety of birth defects and an unusually small size. This condition does not run in families and is not associated with maternal or paternal age. Treatment is based on the signs and symptoms present in each person.

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: Cryptorchidism, Hypospadias, Wide mouth, and Abnormal cranial suture/fontanelle morphology and others; and common findings: Macroglossia, Cleft palate, Micrognathia, and Cataract and others. 34 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	3	Cleft palate, Macrocephaly, Non-midline cleft of the upper lip

Diagnosis

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

Prognosis

Phenotype severity distribution: 10 very common features, 12 common features.

Estimated prevalence: Unknown (Unknown prevalence).

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 triploidy.

144 publications have been identified in PubMed for triploidy. Research spans Basic Science / Preclinical (67%), Diagnostic / Biomarker (9%), and Epidemiology / Natural History (7%).

Research Type	Count	% of Total
Laboratory research	96	67%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 1:00 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:3376

GARD

Genetic and Rare Diseases Info Center

GARD:5295

Questions for Your Care Team

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Kisho

triploidy

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

triploidy

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