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Conductive deafness-malformed external ear syndrome

Disease definition

A very rare, syndromic genetic deafness characterized by mild to moderate conductive hearing loss, dysmorphic pinnae and lip pits or dimples. The pinnae are usually small, cup-shaped, with helix folded forward, and hearing loss is associated with malformed ossicles and displacement of the external auditory canal.

ORPHA:3216

  • Synonym(s):
    • Conductive hearing loss-malformed external ear syndrome
    • Mengel-Konigsmark syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Neonatal
  • ICD-10: -
  • OMIM: 221300
  • UMLS: C1857341  C2931454
  • MeSH: -
  • GARD: 1460
  • MedDRA: -

Additional information

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