Congenital ear anomalies include ears that are absent, deformed, or incompletely developed.
(See also Overview of Congenital Craniofacial Anomalies.)
Microtia and external auditory canal atresia (which causes conductive hearing loss) involve the external ear. These malformations, which frequently coexist, are often identified at or soon after birth. Occasionally, school-based screening tests identify a partially occluded external auditory canal in children with a normal pinna. The external ear may be malformed or underdeveloped. In severe cases, the ear canal can be absent.
Low-set ears are ears positioned below where ears are typically positioned on the head. In low-set ears, the top of the pinna is positioned below the horizontal line connecting the outer corners of the eyes. This anomaly is associated with a number of genetic syndromes and often with developmental delays.
Ear pits and ear tags are minor anomalies typically located in front of the ear. Patients with these anomalies should be evaluated for hearing loss and for other congenital anomalies (eg, kidney anomalies with ear pits in branchio-oto-renal syndrome). The rate of kidney anomalies is increased in people with ear pits, so renal ultrasound should be considered.
Hearing tests and CT of the temporal bone are necessary to evaluate possible additional bony malformations.
This photo shows unilateral microtia.
© Springer Science+Business Media
This child has low-set ears and other facial characteristics of r(18) syndrome.
© Springer Science+Business Media
This photo shows a child with 2 ear pits. The black arrow points to the more common preauricular pit, and the white arrow points to a less common helical pit adjacent to the notch in the helix.
© Springer Science+Business Media
An ear tag (arrow) is a common congenital anomaly.
© Springer Science+Business Media
This photo shows unilateral microtia.
© Springer Science+Business Media
This child has low-set ears and other facial characteristics of r(18) syndrome.
© Springer Science+Business Media
This photo shows a child with 2 ear pits. The black arrow points to the more common preauricular pit, and the white arrow points to a less common helical pit adjacent to the notch in the helix.
© Springer Science+Business Media
An ear tag (arrow) is a common congenital anomaly.
© Springer Science+Business Media
Diagnosis of Congenital Ear Anomalies
Physical examination
Genetic testing
A clinical geneticist should evaluate affected patients even in cases of apparent isolated congenital anomaly.
Chromosomal microarray analysis, specific gene tests, or broader gene panel tests should be considered in the evaluation of patients with congenital craniofacial anomalies. If the results of these tests are nondiagnostic, whole exome sequencing analysis may be recommended.
Treatment of Congenital Ear Anomalies
Surgery
Hearing aid
Treatment of ear anomalies can include surgery and a bone-conduction hearing aid, depending on whether the malformation is unilateral or bilateral; whether it affects hearing, learning, and social development; and whether complications (eg, facial nerve involvement, cholesteatoma, otitis media) are present.
Surgery may include pinna reconstruction and the creation of an external auditory canal, tympanic membrane, and ossicles.
