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chromosome 16q22 deletion syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

chromosome 16q22 deletion syndrome

MONDO:0013798

Also known as:chromosome 16q22 deletion syndrome, isolated cases

Overview

GeneticsSporadic (not inherited)

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 always present findings: Failure to thrive, Global developmental delay, High forehead, and Growth delay and others; and very common findings: Wide anterior fontanel, Low muscle tone (hypotonia), Micrognathia, and Low-set ears. 34 total HPO annotations.

Organ System	Phenotype Count	Example Features
Growth and development	3	Failure to thrive, Postnatal growth retardation, Growth delay

Diagnosis

Biomarker and diagnostic research for chromosome 16q22 deletion syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 always present features, 4 very common features, 10 common features.

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 16q22 deletion syndrome.

5 publications have been identified in PubMed for chromosome 16q22 deletion syndrome. Research spans Case Report / Case Series (40%), Other (20%), and Diagnostic / Biomarker (20%).

Recent Publications

Doğan Arı AB (2026). [PMID: 42230379](https://pubmed.ncbi.nlm.nih.gov/42230379/). *Eur J Pediatr*. [Other]
Tamaru H (2025). [PMID: 41317128](https://pubmed.ncbi.nlm.nih.gov/41317128/). *Congenital anomalies*. [Case Report / Case Series]
Ballesta-Alcaraz L (2025). [PMID: 40565225](https://pubmed.ncbi.nlm.nih.gov/40565225/). *International journal of molecular sciences*. [Diagnostic / Biomarker]
Pagnamenta AT (2025). [PMID: 39894570](https://pubmed.ncbi.nlm.nih.gov/39894570/). *Clinical genetics*. [Basic Science / Preclinical]
He G (2024). [PMID: 38645979](https://pubmed.ncbi.nlm.nih.gov/38645979/). *International journal of women's health*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:52 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614541

Orphanet

European rare disease database

Orphanet:658540

Questions for Your Care Team

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chromosome 16q22 deletion syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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