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chromosome 13q14 deletion syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

chromosome 13q14 deletion syndrome

MONDO:0013481

Also known as:Del(13)(q14)chromosome 13q14 deletion syndrome, isolated casesdel(13q14)

Overview

Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.

GeneticsSporadic (not inherited), Autosomal dominant

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: Absent septum pellucidum, Hearing loss (hearing impairment), Inguinal hernia, and Agenesis of corpus callosum and others; and very common findings: Intellectual disability, Microcephaly, Hypertelorism, and Thickened helices and others. 57 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	4	Thin upper lip vermilion, High palate, Everted lower lip vermilion

Diagnosis

Biomarker and diagnostic research for chromosome 13q14 deletion syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 16 always present features, 8 very common features, 17 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 13q14 deletion syndrome.

10 publications have been identified in PubMed for chromosome 13q14 deletion syndrome. Research spans Case Report / Case Series (30%), Clinical Trial Publication (20%), and Basic Science / Preclinical (20%).

Research Type	Count	% of Total
Patient case studies	3	30%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613884

Orphanet

European rare disease database

Orphanet:1587

GARD

Genetic and Rare Diseases Info Center

GARD:16570

Questions for Your Care Team

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chromosome 13q14 deletion syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

chromosome 13q14 deletion syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications