Thickened earlobes-conductive deafness syndrome

MONDO:0007504

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.

Also known as: Escher-Hirt syndrome, Escher Hirt syndrome, earlobes, thickened, with conductive deafness from incudostapedial abnormalities

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↑ Hereditary disease (18235)

Including sub-types (0) Tagged with Thickened earlobes-conductive deafness syndrome (0)

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