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chromosome 18p deletion syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

chromosome 18p deletion syndrome

MONDO:0007800

Also known as:18p syndrome18p-De Grouchy syndrome

Overview

Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18.

GeneticsSporadic (not inherited), Autosomal dominant

ResearchLimited published research (8 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: Short stature, Depressed nasal ridge, Intellectual disability, and Delayed speech and language development and others; and common findings: Epicanthus, Low muscle tone (hypotonia), Hypertelorism, and Hypomimic face and others. 57 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Dystonia, Depressed nasal ridge, Intellectual disability

Prognosis

Phenotype severity distribution: 10 very common features, 23 common features.

Estimated prevalence: 1-9 in 100,000 (Uncommon).

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 chromosome 18p deletion syndrome.

8 publications have been identified in PubMed for chromosome 18p deletion syndrome. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (13%).

Recent Publications

Deng G (2026). [PMID: 41658620](https://pubmed.ncbi.nlm.nih.gov/41658620/). *Frontiers in medicine*. [Case Report / Case Series]
Giannotti CCP (2025). [PMID: 39755266](https://pubmed.ncbi.nlm.nih.gov/39755266/). *Autoimmunity reviews*. [Review / Meta-Analysis]
Allegri B (2025). [PMID: 40001201](https://pubmed.ncbi.nlm.nih.gov/40001201/). *Italian journal of pediatrics*. [Epidemiology / Natural History]
Matei MI (2025). [PMID: 40710875](https://pubmed.ncbi.nlm.nih.gov/40710875/). *Reports (MDPI)*. [Case Report / Case Series]
Ye J (2025). [PMID: 40855492](https://pubmed.ncbi.nlm.nih.gov/40855492/). *BMC endocrine disorders*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:41 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:146390

Orphanet

European rare disease database

Orphanet:1598 Orphanet:261974

GARD

Genetic and Rare Diseases Info Center

GARD:8631

Questions for Your Care Team

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chromosome 18p deletion syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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