Associated Syndromes

Aural atresia refers to the absence an external ear canal. When someone has aural atresia, there is a high incidence of malformation of the external ear, known as Microtia. Atresia/Microtia is frequently isolated, meaning, the patient with atresia and/or microtia has no other health problems.

However, approximately 40 % of the time, Atresia/Microtia is one symptom of a larger syndrome, such as:

• Treacher Collins
• Hemifacial Microsomia
• Goldenhar
• Crouzon's
• Pfeiffer
• Apert
• Nager / Miller
• Klippel-Feil
• BOR (Branchio-Oto-Renal) also known as Melnick-Fraser
• Pierre Robin
• CHARGE syndrome
• The only known source of atresia without microtia that can be confirmed by blood test is Chromosome 18q- syndrome.