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tetrasomy 5p - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

tetrasomy 5p

MONDO:0018028

Also known as:Isochromosome 5ptetrasomy type 5p

Overview

Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia).

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: Seizure, Global developmental delay, Neonatal hypotonia, and Cerebellar hypoplasia and others; and common findings: Hypertelorism, Long philtrum, Low-set ears, and Wide nasal bridge and others. 44 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	4	High blood pressure in lung arteries (pulmonary arterial hypertension), Respiratory distress, Recurrent respiratory infections

Prognosis

Phenotype severity distribution: 21 very common features, 16 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 tetrasomy 5p.

5 publications have been identified in PubMed for tetrasomy 5p. Research spans Review / Meta-Analysis (40%), Case Report / Case Series (20%), and Basic Science / Preclinical (20%).

Recent Publications

Abunaser SMA (2025). [PMID: 40925076](https://pubmed.ncbi.nlm.nih.gov/40925076/). *Cancer Genet*. [Case Report / Case Series]
Buczyńska A (2025). [PMID: 40710310](https://pubmed.ncbi.nlm.nih.gov/40710310/). *Cells*. [Review / Meta-Analysis]
Charras A (2025). [PMID: 39660463](https://pubmed.ncbi.nlm.nih.gov/39660463/). *Curr Opin Rheumatol*. [Review / Meta-Analysis]
Rodrigues PS (2025). [PMID: 40204846](https://pubmed.ncbi.nlm.nih.gov/40204846/). *Sci Rep*. [Basic Science / Preclinical]
Popek-Marciniec S (2025). [PMID: 40115011](https://pubmed.ncbi.nlm.nih.gov/40115011/). *Front Oncol*. [Epidemiology / Natural History]

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 2:44 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:3309

GARD

Genetic and Rare Diseases Info Center

GARD:18792

Questions for Your Care Team

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tetrasomy 5p

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

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