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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.

ORPHA:50815

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: -

  A summary on this disease is available in Deutsch (2014) Español (2014) Italiano (2014) Nederlands (2014) Français (2005) Polski (2014, pdf)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.