Branchiogenic deafness syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Branchiogenic deafness syndrome

Synonyms: Branchiogenic hearing loss syndrome | Mégarbané-Loiselet syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version April 2024

Newly diagnosed with
Branchiogenic deafness syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Clinical Trials

For a list of clinical trials in this disease area, please click here.