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sternal cleft - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

sternal cleft

MONDO:0016066

Also known as:cleft sternumsternum bifidumcongenital sternal cleft

Overview

Sternal cleft (SC) is a rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated.

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: Abnormal thorax morphology, Abnormal sternum morphology, and Bifid sternum; and common findings: Dyspnea, Recurrent respiratory infections, and Cough.

Organ System	Phenotype Count	Example Features
Lungs and breathing	2	Dyspnea, Recurrent respiratory infections

Prognosis

Phenotype severity distribution: 3 very common features, 3 common features.

Estimated prevalence: 1-9 in 100,000 (Uncommon).

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 sternal cleft.

16 publications have been identified in PubMed for sternal cleft. Research spans Case Report / Case Series (75%), Other (6%), and Review / Meta-Analysis (6%).

Research Type	Count	% of Total
Patient case studies	12	75%

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 11:10 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2017

GARD

Genetic and Rare Diseases Info Center

GARD:5012

Questions for Your Care Team

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sternal cleft

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

sternal cleft

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications