Otocephaly

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Otocephaly

Otocephaly (/oʊtoʊˈsɛfəli/; from Greek oto meaning "ear" and cephaly meaning "head") is a rare and lethal congenital disorder characterized by the absence or underdevelopment of the lower jaw (also known as micrognathia), absence of the ear (also known as anotia), and fusion of the upper and lower parts of the ear (also known as synotia).

Etymology

The term Otocephaly is derived from the Greek words oto meaning "ear" and cephaly meaning "head". It was first used in medical literature to describe the unique combination of ear and cranial malformations seen in this condition.

Symptoms

The most common symptoms of Otocephaly include micrognathia, anotia, and synotia. Other associated anomalies may include cyclopia (a single eye in the middle of the forehead), proboscis (a nose-like structure), and holoprosencephaly (a disorder in which the brain fails to divide into two hemispheres).

Causes

The exact cause of Otocephaly is unknown. However, it is believed to be due to a combination of genetic and environmental factors. Some studies suggest a possible association with maternal diabetes and use of certain medications during pregnancy.

Diagnosis

Diagnosis of Otocephaly is usually made prenatally through ultrasound examination. The condition can be confirmed postnatally through physical examination and imaging studies such as computed tomography (CT) or magnetic resonance imaging (MRI).

Treatment

There is currently no cure for Otocephaly. Treatment is supportive and focuses on managing symptoms. This may include surgeries to correct facial abnormalities and improve breathing and feeding.

Prognosis

Otocephaly is a lethal condition. Most affected infants die before birth or shortly after birth due to severe breathing difficulties.

See also

External links

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