Cebocephaly

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Cebocephaly is a rare congenital malformation characterized by a combination of craniofacial anomalies. It is a subtype of holoprosencephaly, a disorder resulting from the incomplete division of the prosencephalon (the embryonic forebrain) into distinct cerebral hemispheres.

Presentation

Individuals with cebocephaly typically present with a small, flattened nose with a single nostril (a condition known as proboscis) and closely set eyes (hypotelorism). The condition is often associated with other severe brain anomalies due to the underlying holoprosencephaly.

Causes

Cebocephaly is caused by genetic mutations or environmental factors that disrupt the normal development of the forebrain during early embryogenesis. It can be associated with chromosomal abnormalities such as trisomy 13 (Patau syndrome).

Diagnosis

Diagnosis of cebocephaly is usually made through prenatal imaging techniques such as ultrasound and magnetic resonance imaging (MRI). These imaging modalities can reveal the characteristic facial features and associated brain anomalies.

Treatment

There is no specific treatment for cebocephaly. Management focuses on addressing the associated symptoms and complications. This may involve a multidisciplinary approach including neurosurgery, plastic surgery, and supportive care.

Prognosis

The prognosis for individuals with cebocephaly is generally poor due to the severity of the associated brain malformations. Many affected individuals do not survive infancy.

See also

• Holoprosencephaly
• Craniofacial abnormalities
• Trisomy 13
• Congenital disorder