Conductive deafness-malformed external ear syndrome

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Conductive deafness-malformed external ear syndrome

Synonyms: Conductive hearing loss-malformed external ear syndrome | Mengel-Konigsmark syndrome

A very rare syndromic genetic deafness characterized by mild to moderate conductive hearing loss dysmorphic pinnae and lip pits or dimples. The pinnae are usually small cup-shaped with helix folded forward and hearing loss is associated with malformed ossicles and displacement of the external auditory canal.

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 http: // Data version September 2023.

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