Cebocephaly

Cebocephaly (from Greek kebos, "monkey" + kephale, "head") is a developmental anomaly that is part of a group of defects called holoprosencephaly. Cebocephaly involves the presence of two separate eyes set close together and a small, flat nose with a single nostril (no nasal septum). It may be diagnosed before or after birth. It has a very poor prognosis, with most affected infants dying soon after birth. It is very rare, having been estimated to affect around 1 in 40,000 deliveries.

Cebocephaly
Cebocephaly in a 4-month-old girl as a result of 18p-
Symptoms	Close-set eyes, flat nose, single nostril
Causes	Genetic conditions, some vertically transmitted infections
Diagnostic method	Before birth: ultrasound After birth: symptoms, CT scan
Prognosis	Poor (high mortality)
Frequency	1 in 40,000 deliveries

Signs and symptoms

Cebocephaly causes:

• two separate eyes set close together^[1]
• a small, flat nose with a single nostril^[1]
• ear abnormalities^[2]
• mouth abnormalities (such as microstomia)^[1]

The presence of a nasal septum precludes a diagnosis of cebocephaly.^[3] Cebocephaly may cause malformations of the sphenoid and ethmoid bones behind the orbit.^[1]

Cause

Cebocephaly can be caused by many factors, particularly genetic variations.^[4] These include 18p-,^[2] 14q deletion,^[5] 13q deletion,^[6] and some vertically transmitted infections.^[7] It is part of a group of defects called holoprosencephaly.^[7][8]

Diagnosis

Before birth, cebocephaly may sometimes be diagnosed using ultrasound.^[6][7] After birth, cebocephaly is diagnosed based on the characteristic symptoms.^[7] A CT scan may be used to confirm the diagnosis.^[7]

Prognosis

Most infants born with cebocephaly die soon after birth.^[7]

Epidemiology

Cebocephaly is very uncommon.^[9] Some estimates of its prevalence include 1 in 40,000 neonatal deliveries.^[1]

History

The word "cebocephaly" is derived from Greek kebos (monkey), and kephale (head).

See also

• Cephalic disorder