Otocephaly

Otocephaly is a rare and lethal congenital disorder characterized by the absence or underdevelopment of the lower jaw (mandible), the absence of the ear structures (auricles), and the fusion of the upper parts of the skull (synotia). This condition is also known as agnathia-otocephaly complex.

Etiology

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 that mutations in the PITX1 and OTX2 genes may be associated with the condition. These genes are involved in the development of the head and face. Environmental factors such as maternal diabetes, exposure to certain medications during pregnancy, and maternal alcohol consumption may also increase the risk of otocephaly.

Clinical Features

The main clinical features of otocephaly include:

• Absence or underdevelopment of the lower jaw (agnathia)
• Absence of the ear structures (auricularia)
• Fusion of the upper parts of the skull (synotia)
• Other abnormalities may include cleft palate, microstomia (small mouth), and microglossia (small tongue)

Diagnosis

Otocephaly can be diagnosed prenatally through ultrasound examination. The condition can also be confirmed after birth through physical examination and imaging studies such as computed tomography (CT) scan or magnetic resonance imaging (MRI).

Prognosis

Otocephaly is a lethal condition. Most affected infants die before birth or shortly after birth due to respiratory failure.

Management

There is currently no cure for otocephaly. Management is supportive and focuses on addressing the symptoms and complications of the condition.

See Also

• Congenital disorder
• PITX1
• OTX2
• Ultrasound
• Computed tomography
• Magnetic resonance imaging

Otocephaly Resources
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