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Branchiogenic deafness syndrome

Disease definition

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.


Classification level: Disorder
  • Synonym(s):
    • Branchiogenic hearing loss syndrome
    • Mégarbané-Loiselet syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q87.0
  • OMIM: 609166
  • UMLS: C1836673
  • MeSH: C563780
  • GARD: -
  • MedDRA: -
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