Thickened earlobes-conductive deafness syndrome
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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