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Thickened earlobes-conductive deafness syndrome

Synonym(s) Escher-Hirt syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset All ages
  • H90.0
MeSH -
MedDRA -


Disease definition

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.

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