Birth defects, also called congenital anomalies, are physical abnormalities that occur before a baby is born. "Congenital" means "present at birth." (See also Introduction to Birth Defects of the Face, Bones, Joints, and Muscles Introduction to Birth Defects of the Face, Bones, Joints, and Muscles Birth defects, also called congenital anomalies, are physical abnormalities that occur before a baby is born. "Congenital" means "present at birth." Birth defects of the face and limbs are fairly... read more .)
Birth defects of the ear include the following:
External auditory canal atresia Auditory canal atresia Developmental abnormalities are abnormalities that are present at birth or are identified soon after birth. Developmental abnormalities of the outer ear include microtia (also called small ear)... read more
, which is a partially or fully closed off ear canalLow-set ears, in which the ears are located below their typical position on the head
Ear pits and ear tags, which are minor defects typically located in front of the ear
Microtia and external auditory canal atresia often occur together and are usually identified at or soon after birth.
Low-set ears may occur with a number of genetic syndromes, and children often have developmental delays. Ears are considered low set if the top of the ear is below the outer corners of the eyes.
Ear pits and ear tags may be signs that children have other problems, so doctors often test them for hearing loss Screening and Diagnosis Hearing impairment refers to any degree of hearing loss, mild to severe, and can occur when there is a problem with a part of the ear, including the inner, middle, and outer ears, or the nerves... read more 
and for other birth defects. Children who have ear pits are at increased risk of having kidney problems, so doctors also may do ultrasonography Ultrasonography There are a variety of tests that can be used in the evaluation of a suspected kidney or urinary tract disorder. (See also Overview of the Urinary Tract.) X-rays are usually not helpful in evaluating... read more of the kidneys.
This photo shows a small and deformed external ear (microtia). Microtia is a birth defect.
© Springer Science+Business Media
This photo shows a child who has low-set ears and other facial features of a disorder called r(18) syndrome. Low-set ears are a birth defect.
© Springer Science+Business Media
This photo shows a child with two ear pits, which are birth defects. The black arrow points to an ear pit that appears in a spot where ear pits more commonly occur. The white arrow points to an ear pit that appears in a spot where ear pits less commonly occur.
© Springer Science+Business Media
This photo shows an ear tag (arrow), which is a birth defect.
© Springer Science+Business Media
Diagnosis of Ear Defects
A doctor's evaluation
Hearing tests
Imaging tests of the skull
Sometimes genetic testing
Doctors can identify many ear defects during a physical examination.
Doctors do hearing tests Screening and Diagnosis Hearing impairment refers to any degree of hearing loss, mild to severe, and can occur when there is a problem with a part of the ear, including the inner, middle, and outer ears, or the nerves... read more to see whether hearing is affected and also do imaging tests of the skull to look for problems with the bones.
A baby who has birth defects of the ear may be evaluated by a geneticist. A geneticist is a doctor who specializes in genetics (the science of genes and how certain qualities or traits are passed from parents to offspring). Genetic testing of a sample of the baby's blood may be done to look for chromosome and gene abnormalities. This testing can help doctors determine whether a specific genetic disorder is the cause and rule out other causes.
Treatment of Ear Defects
Surgery
Hearing aid
Treatment of ear defects may involve reconstructive surgery to create a normal-looking external ear and to create an external ear canal.
Sometimes, a hearing aid Treatment Hearing impairment refers to any degree of hearing loss, mild to severe, and can occur when there is a problem with a part of the ear, including the inner, middle, and outer ears, or the nerves... read more is necessary.
Because abnormal genes may be involved in the formation of birth defects of the ear, affected families may benefit from genetic counseling.
