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Microtia

Disease definition

A congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal.

ORPHA:83463

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: 1-5 / 10 000
  • Inheritance: Autosomal dominant or Autosomal recessive or Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q17.2
  • ICD-11: LA22.0
  • OMIM: 128800  600674
  • UMLS: C0152423
  • MeSH: D065817
  • GARD: -
  • MedDRA: 10027555

  A summary on this disease is available in Deutsch (2013) Español (2013) Français (2013) Italiano (2013) Nederlands (2013) Polski (2013, pdf) Suomi (2013, pdf) Russian (2013, pdf) Polski (2013)

Detailed information

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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.