Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

chromosome 13q33-q34 deletion syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

chromosome 13q33-q34 deletion syndrome

MONDO:0030896

Overview

GeneticsAutosomal dominant

OnsetCONGENITAL

ResearchLimited published research (3 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: Epicanthus, Low muscle tone (hypotonia), and Hypertelorism; and very common findings: Tented upper lip vermilion, Strabismus, Trigonocephaly, and Posteriorly rotated ears and others. 61 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	4	Tented upper lip vermilion, Cleft lip, Microcephaly

Diagnosis

Biomarker and diagnostic research for chromosome 13q33-q34 deletion syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 8 very common features, 24 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 13q33-q34 deletion syndrome.

3 publications have been identified in PubMed for chromosome 13q33-q34 deletion syndrome. Research spans Diagnostic / Biomarker (33%), Review / Meta-Analysis (33%), and Basic Science / Preclinical (33%).

Recent Publications

Sahajpal NS (2025). [PMID: 40107724](https://pubmed.ncbi.nlm.nih.gov/40107724/). *Genome Res*. [Basic Science / Preclinical]
Wójtowicz A (2024). [PMID: 39410589](https://pubmed.ncbi.nlm.nih.gov/39410589/). *Diagnostics (Basel)*. [Diagnostic / Biomarker]
López C (2024). [PMID: 38748869](https://pubmed.ncbi.nlm.nih.gov/38748869/). *Blood Adv*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 1:15 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619148

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

chromosome 13q33-q34 deletion syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features