(See also Introduction to Congenital Craniofacial and Musculoskeletal Disorders Introduction to Congenital Craniofacial and Musculoskeletal Abnormalities Craniofacial and musculoskeletal abnormalities are common among children. They may involve only a single, specific site (eg, cleft lip, cleft palate, clubfoot) or be part of a syndrome of multiple... read more and Overview of Congenital Craniofacial Abnormalities Overview of Congenital Craniofacial Abnormalities Congenital craniofacial abnormalities are a group of defects caused by abnormal growth and/or development of the head and facial soft-tissue structures and/or bones. (See also Introduction to... read more .)
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.
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 abnormality 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 ultrasonography should be considered.
Hearing tests Physical examination Worldwide, about half a billion people (almost 8% of the world's population) have hearing loss ( 1). More than 10% of people in the US have some degree of hearing loss that compromises their... read more 
and CT of the temporal bone are necessary to evaluate possible additional bony malformations.
This photo shows unilateral microtia.
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This child has low-set ears and other facial characteristics of r(18) syndrome.
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This photo shows a child with two 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.
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An ear tag (arrow) is a congenital abnormality.
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Diagnosis
Clinical appearance
Genetic testing
A clinical geneticist should evaluate affected patients even in cases of apparent isolated congenital anomaly.
Chromosomal microarray analysis Diagnosis Chromosomal anomalies cause various disorders. Anomalies that affect autosomes (the 22 paired chromosomes that are alike in males and females) are more common than those that affect sex chromosomes... read more , specific gene tests, or broader gene panel tests should be considered in the evaluation of patients with congenital craniofacial abnormalities. If the results of these tests are nondiagnostic, whole exome sequencing analysis is recommended.
Treatment of Congenital Ear Abnormalities
Surgery
Hearing aid
Treatment of ear abnormalities 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.
