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Thickened earlobes-conductive deafness syndrome

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.

ORPHA:2405

  • Synonym(s):
    • Escher-Hirt syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: H90.0
  • OMIM: 128980
  • UMLS: -
  • MeSH: -
  • GARD: 2195
  • MedDRA: -

Additional information

Further information on this disease

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