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Conductive deafness-malformed external ear syndrome
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:3216Classification level: Disorder
A summary on this disease is available in Español (2018) Italiano (2018) Nederlands (2018)
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