Conductive deafness-malformed external ear syndrome
ORPHA:3216· ICD-10 Q17.8
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.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Unknown
- Age of onset
- Neonatal