branchiootic syndrome 3

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branchiootic syndrome 32016-11-24T22:08:46+00:00

branchiootic syndrome 3

EMBRYOLOGY

Definition A disorder (OMIM:608389) characterised by usually bilateral branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, and structural defects of the outer, middle and inner ear.

Otic defects Malformed and hypoplastic pinnae, narrowed external ear canal, bulbous internal auditory canal, stapes fixation, malformed and hypoplastic cochlea. Branchial and otic anomalies overlap with those seen in the branchiootorenal syndrome, but renal anomalies are absent.

Molecular pathology Defects of SIX1, which encodes a homeobox protein  possibly involved in limb development, cause branchiootic syndrome 3. 

References http://www.uniprot.org/uniprot/Q15475

http://www.omim.org/entry/608389

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