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chromosome 15q26-qter deletion syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

chromosome 15q26-qter deletion syndrome

MONDO:0012964

Also known as:15q26 deletion syndromeDrayer syndromechromosome 15q26-qter deletion syndrome, isolated cases

Overview

Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.

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 very common findings: Small for gestational age and Intrauterine growth retardation; and common findings: Micropenis, Microcephaly, Abnormal cardiac septum morphology, and Strabismus and others. 64 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	7	Abnormal cardiac septum morphology, Bicuspid aortic valve, Mitral stenosis

Prognosis

Phenotype severity distribution: 2 very common features, 48 common features.

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 chromosome 15q26-qter deletion syndrome.

5 publications have been identified in PubMed for chromosome 15q26-qter deletion syndrome. Research spans Case Report / Case Series (80%) and Basic Science / Preclinical (20%).

Recent Publications

Yu K (2026). [PMID: 42130906](https://pubmed.ncbi.nlm.nih.gov/42130906/). *Biomed Rep*. [Basic Science / Preclinical]
Thrishulamurthy CJ (2025). [PMID: 40719725](https://pubmed.ncbi.nlm.nih.gov/40719725/). *Indian journal of ophthalmology*. [Case Report / Case Series]
Buha I (2025). [PMID: 41339980](https://pubmed.ncbi.nlm.nih.gov/41339980/). *Journal of applied genetics*. [Case Report / Case Series]
Vitetta G (2024). [PMID: 38589928](https://pubmed.ncbi.nlm.nih.gov/38589928/). *Molecular cytogenetics*. [Case Report / Case Series]
Dincer BT (2024). [PMID: 39816431](https://pubmed.ncbi.nlm.nih.gov/39816431/). *Sisli Etfal Hastanesi tip bulteni*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612626

Orphanet

European rare disease database

Orphanet:1596

GARD

Genetic and Rare Diseases Info Center

GARD:16572

Questions for Your Care Team

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Kisho

chromosome 15q26-qter deletion syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Roles of insulin-like growth factor 1 receptor in growth regulation in 15q26 deletion and duplication syndrome.

chromosome 15q26-qter deletion syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

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

Roles of insulin-like growth factor 1 receptor in growth regulation in 15q26 deletion and duplication syndrome.