Conductive deafness with malformed external ear
Other Names: Conductive deafness - malformed external ear; Mengel-Konigsmark syndrome; Ear deformity and conductive hearing loss; Familial congenital moderate neural hearing loss; Conductive hearing loss and malformed low-set ears
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.
NIH genetic and rare disease info
Conductive deafness with malformed external ear is a rare disease.
Latest research - Conductive deafness with malformed external ear