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trisomy 8p - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

trisomy 8p

MONDO:0017013

Also known as:Duplication 8ptrisomy type 8p

Overview

Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported.

ResearchLimited published research (3 articles)

Diagnosis

Biomarker and diagnostic research for trisomy 8p has been reported in the published literature.

Prognosis

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 trisomy 8p.

3 publications have been identified in PubMed for trisomy 8p. Research spans Review / Meta-Analysis (67%) and Diagnostic / Biomarker (33%).

Recent Publications

Horbacz M (2025). [PMID: 41210864](https://pubmed.ncbi.nlm.nih.gov/41210864/). *Front Med (Lausanne)*. [Diagnostic / Biomarker]
Carey-Smith SL (2024). [PMID: 38999925](https://pubmed.ncbi.nlm.nih.gov/38999925/). *Int J Mol Sci*. [Review / Meta-Analysis]
Papamichail M (2024). [PMID: 38622524](https://pubmed.ncbi.nlm.nih.gov/38622524/). *BMC Womens Health*. [Review / Meta-Analysis]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 1:00 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:264450

GARD

Genetic and Rare Diseases Info Center

GARD:20920

Questions for Your Care Team

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trisomy 8p

Overview

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team