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trisomy 4p - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

trisomy 4p

MONDO:0015767

Also known as:Duplication 4pDuplication of the short arm of chromosome 4trisomy of the short arm of chromosome 4

Overview

Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males.

ResearchLimited published research (4 articles)

Prognosis

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 trisomy 4p.

4 publications have been identified in PubMed for trisomy 4p. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (25%), and Epidemiology / Natural History (25%).

Recent Publications

Buğday T (2025). [PMID: 41131493](https://pubmed.ncbi.nlm.nih.gov/41131493/). *BMC Pediatr*. [Case Report / Case Series]
Kırman ÜN (2025). [PMID: 39837287](https://pubmed.ncbi.nlm.nih.gov/39837287/). *Cytogenet Genome Res*. [Case Report / Case Series]
Mekkawy MK (2025). [PMID: 39911168](https://pubmed.ncbi.nlm.nih.gov/39911168/). *Mol Syndromol*. [Review / Meta-Analysis]
Meng M (2024). [PMID: 39356042](https://pubmed.ncbi.nlm.nih.gov/39356042/). *Acta Obstet Gynecol Scand*. [Epidemiology / Natural History]

Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 2:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1738

GARD

Genetic and Rare Diseases Info Center

GARD:6091

Questions for Your Care Team

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trisomy 4p

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team