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chromosome 22q11.2 deletion syndrome, distal - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

chromosome 22q11.2 deletion syndrome, distal

MONDO:0012740

Also known as:distal 22q11.2 microdeletion syndromedistal del(22)(q11.2)distal monosomy 22q11.2

Overview

Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumors.

Patient Orgs1 organizations · International 22q11.2 Foundation

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: Smooth philtrum; and very common findings: Highly arched eyebrow and Intrauterine growth retardation. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	2	Cleft palate, Thin upper lip vermilion

Prognosis

Phenotype severity distribution: 1 always present feature, 2 very common features, 9 common features.

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 chromosome 22q11.2 deletion syndrome, distal.

5 publications have been identified in PubMed for chromosome 22q11.2 deletion syndrome, distal. Research spans Basic Science / Preclinical (40%), Epidemiology / Natural History (40%), and Case Report / Case Series (20%).

Recent Publications

Papageorgiou L (2026). [PMID: 41751632](https://pubmed.ncbi.nlm.nih.gov/41751632/). *Genes*. [Basic Science / Preclinical]
Nelson TJ (2026). [PMID: 41360439](https://pubmed.ncbi.nlm.nih.gov/41360439/). *Clin Genet*. [Epidemiology / Natural History]
Clarke TL (2025). [PMID: 40523937](https://pubmed.ncbi.nlm.nih.gov/40523937/). *Nature cell biology*. [Basic Science / Preclinical]
Shima H (2025). [PMID: 39777126](https://pubmed.ncbi.nlm.nih.gov/39777126/). *Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology*. [Case Report / Case Series]
Haj Mohamad H (2025). [PMID: 40084332](https://pubmed.ncbi.nlm.nih.gov/40084332/). *Cureus*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Patient Advocacy Groups

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International 22q11.2 FoundationPrimary Focus

USWebsite ↗

Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.

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Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611867

Orphanet

European rare disease database

Orphanet:261330

GARD

Genetic and Rare Diseases Info Center

GARD:17245

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→How can I connect with International 22q11.2 Foundation and other patient organizations for support?

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Kisho

chromosome 22q11.2 deletion syndrome, distal

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Phenocopies of 22q11.2DS: revealing genetic diversity in clinically suspected 22q11.2 deletion syndrome.

chromosome 22q11.2 deletion syndrome, distal

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Phenocopies of 22q11.2DS: revealing genetic diversity in clinically suspected 22q11.2 deletion syndrome.