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second branchial cleft anomaly - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

second branchial cleft anomaly

MONDO:0007233

Also known as:branchial cleftbranchial cleft remnantsecond branchial cleft cyst

Overview

A congenital defect in the neck that occurs during early embryonic development. It is caused by developmental abnormalities of the pharyngeal arches and results in the development of a cyst or a fissure in the side of the neck.

GeneticsAutosomal dominant

Clinical Presentation

Features include: Abnormality of the neck.

Explore clinical features

Diagnosis

Biomarker and diagnostic research for second branchial cleft anomaly has been reported in the published literature.

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 second branchial cleft anomaly.

120 publications have been identified in PubMed for second branchial cleft anomaly. Research spans Case Report / Case Series (62%), Diagnostic / Biomarker (13%), and Review / Meta-Analysis (8%).

Research Type	Count	% of Total
Patient case studies	74	62%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:53 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:113600

Orphanet

European rare disease database

Orphanet:141022

GARD

Genetic and Rare Diseases Info Center

GARD:16968

Questions for Your Care Team

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second branchial cleft anomaly

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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