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branchiogenic deafness syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

branchiogenic deafness syndrome

MONDO:0012209

Also known as:MC)garbanC)-Loiselet syndromeMégarbané-Loiselet syndrome

Overview

Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent.

GeneticsAutosomal 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: Submucous cleft hard palate, Abnormal foot morphology, Preauricular skin tag, and Preauricular pit and 10 more.

Organ System	Phenotype Count	Example Features
Arms and legs	2	Abnormal foot morphology, Short distal phalanx of finger

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 7:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609166

Orphanet

European rare disease database

Orphanet:50815

GARD

Genetic and Rare Diseases Info Center

GARD:16648

Questions for Your Care Team

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branchiogenic deafness syndrome

Overview

Clinical Presentation

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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