X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
A rare syndromic genetic deafness characterized by congenital hearing loss atresia or stenosis of the external auditory canal dilated internal auditory canal malformation of the inner ear (incomplete separation of the cochlea basal turn from the fundus of the internal auditory canal) in combination with abnormal auricular shape and facial dysmorphism (including thick eyebrows ptosis broad nasal root and telecanthus). Intelligence is normal and developmental delay is 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 http://www.orphadata.org. Data version April 2024
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X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome?
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