Ears can be missing, deformed, or incompletely developed at birth.
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 and Skull.)
Birth defects of the ear include the following:
Microtia, which is a small and deformed or underdeveloped external ear (pinna)
External auditory canal atresia, which is a partially or fully closed off ear canal
Low-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. In severe cases, the ear canal can be missing.
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 are common birth defects. They may be signs that children have other problems, so doctors often test them for hearing loss and for other birth defects. Children who have ear pits are at increased risk of having kidney problems, so doctors also may do ultrasound studies 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 2 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 common birth defect.
© Springer Science+Business Media
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 2 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 common birth defect.
© Springer Science+Business Media
Utambuzi wa kasoro za sikio
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 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 children). 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.
Matibabu ya kasoro za Sikio
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 is necessary.
Because abnormal genes may be involved in the formation of birth defects of the ear, affected families may benefit from genetic counseling.
