Thickened earlobes-conductive deafness syndrome

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Synonyms: Escher-Hirt syndrome | Thickened earlobes-conductive hearing loss syndrome

Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant.

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 June 2024

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