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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

Classification level: Disorder
  • Synonym(s):
    • Escher-Hirt syndrome
    • Thickened earlobes-conductive hearing loss 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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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.