Conductive deafness-malformed external ear syndrome

Orpha code: 3216OMIM code: 221300

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.

Disease data
Classification

Malformation syndrome

Synonyms
Conductive hearing loss-malformed external ear syndrome
Zespół Mengela i Konigsmarka
Mengel-Konigsmark syndrome
ORPHA code
3216
OMIM code
221300
ICD10 code
Q17.8
ICD11 code
-

No additional description.

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