Congenital aural atresia (CAA) is an autosomal dominant defect that is characterized by hypoplasia of the external auditory canal, often in association with dysmorphic features of auricle, middle ear, and, occasionally, the inner ear structures. Recently, heterozygous mutations in TSHZ1 were described to cause CAA in human. TSHZ1 has been shown to be important for murine middle-ear development.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Structural developmental anomalies primarily affecting one body system
Structural developmental anomalies of the ear
LA22 Structural developmental anomalies of ear causing hearing impairment
H02115 Congenital aural atresia
