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Jacobsen syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Jacobsen syndrome

MONDO:0007838

Also known as:11q terminal deletion disorderDel(11)(q23.3)Del(11)(qter)

Find Clinical TrialsTrials

Overview

A multiple congenital anomaly/intellectual disability contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

GeneticsSporadic (not inherited)

Clinical Trials1 registered · 1 recruiting

Patient Orgs1 organizations · European Chromosome 11q Network

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: Microcephaly, Global developmental delay, and Intrauterine growth retardation. 50 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	5	Strabismus, Amblyopia, Damage to the optic nerve (optic atrophy)

Prognosis

Phenotype severity distribution: 3 always present 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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

17 publications have been identified in PubMed for Jacobsen syndrome. Research spans Case Report / Case Series (53%), Basic Science / Preclinical (29%), and Other (6%).

Research Type	Count	% of Total
Patient case studies	9	53%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:11 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Patient Advocacy Groups

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European Chromosome 11q NetworkPrimary 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:147791

Orphanet

European rare disease database

Orphanet:2308

GARD

Genetic and Rare Diseases Info Center

GARD:307

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→How can I connect with European Chromosome 11q Network and other patient organizations for support?

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Kisho

Jacobsen syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

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

Recent Publications

Jacobsen syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

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

Recent Publications