Anotia

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Anotia
Anotia Illustration.jpg
Synonyms Congenital absence of the ear
Pronounce N/A
Specialty N/A
Symptoms Absence of the external ear
Complications Hearing loss
Onset Congenital
Duration Lifelong
Types N/A
Causes Genetic mutations, environmental factors
Risks Family history, maternal exposure to certain drugs or infections during pregnancy
Diagnosis Physical examination, imaging studies
Differential diagnosis Microtia, other ear malformations
Prevention Prenatal care, avoiding teratogens
Treatment Reconstructive surgery, hearing aids
Medication N/A
Prognosis Variable, depends on associated conditions
Frequency Rare
Deaths N/A


Anotia is a rare congenital condition where the external ear (pinna) is completely absent. It is often associated with other facial abnormalities and can occur as part of a syndrome or as an isolated defect. Anotia can be unilateral, affecting one ear, or bilateral, affecting both ears.

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Causes

The exact cause of anotia is unknown, but it is thought to be due to a combination of genetic and environmental factors. Some studies suggest that maternal exposure to certain medications or substances during pregnancy may increase the risk of anotia. These include retinoic acid, thalidomide, and certain antiepileptic drugs. However, more research is needed to confirm these findings.

Diagnosis

Anotia is usually diagnosed at birth through a physical examination. In some cases, it may be detected during a prenatal ultrasound. Other tests may be done to check for associated abnormalities or syndromes. These can include a hearing test, a CT scan or MRI of the head, and genetic testing.

Treatment

The treatment for anotia depends on the severity of the condition and whether it is part of a syndrome. In some cases, reconstructive surgery may be done to create an external ear. This is usually done when the child is older and the facial bones have fully developed. If the child has hearing loss, a hearing aid or cochlear implant may be recommended.

Prognosis

The prognosis for individuals with anotia varies. Some individuals may have normal hearing, while others may have hearing loss. The presence of other abnormalities or syndromes can also affect the prognosis. With appropriate treatment and support, most individuals with anotia can lead normal lives.

See also

References

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Contributors: Prab R. Tumpati, MD