Aural Atresia, Congenital

A hereditary autosomal dominant ear abnormality where defects in structures of the AUDITORY CANAL or MIDDLE EAR result in CONDUCTIVE HEARING LOSS. Decreased odor sensitivity and discrimination may also occur in some patients due to hypoplasia of the OLFACTORY BULB. Mutations in the TSHZ1 gene have been identified. OMIM: 607842

Source last updated 2026-05-24T15:30:05.592Z