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pentasomy X - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pentasomy X

MONDO:0015228

Also known as:49, XXXXX syndrome49,XXXXX syndromePenta X Syndrome

Find Clinical TrialsTrials

Overview

Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX).

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (4 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: Posteriorly rotated ears and Low muscle tone (hypotonia); and common findings: Microcephaly, Hypertelorism, Wide nasal bridge, and Strabismus and others. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	4	Short foot, Clinodactyly of the 5th finger, Camptodactyly of finger

Prognosis

Phenotype severity distribution: 2 very common features, 15 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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

4 publications have been identified in PubMed for pentasomy X. Research spans Case Report / Case Series (50%) and Epidemiology / Natural History (50%).

Recent Publications

Carl A (2025). [PMID: 39953941](https://pubmed.ncbi.nlm.nih.gov/39953941/). *Am J Med Genet A*. [Epidemiology / Natural History]
Du Y (2025). [PMID: 40755837](https://pubmed.ncbi.nlm.nih.gov/40755837/). *Genet Res (Camb)*. [Case Report / Case Series]
Borthakur K (2025). [PMID: 41311049](https://pubmed.ncbi.nlm.nih.gov/41311049/). *J Clin Ultrasound*. [Case Report / Case Series]
Carl A (2024). [PMID: 39185520](https://pubmed.ncbi.nlm.nih.gov/39185520/). *medRxiv*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 12:52 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:11

GARD

Genetic and Rare Diseases Info Center

GARD:5678

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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pentasomy X

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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