| 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 |
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.
Signs and symptoms
Cebocephaly causes:
- two separate eyes set close together
- a small, flat nose with a single nostril
- ear abnormalities
- mouth abnormalities (such as microstomia)
The presence of a nasal septum precludes a diagnosis of cebocephaly. Cebocephaly may cause malformations of the sphenoid and ethmoid bones behind the orbit.
Cause
Cebocephaly can be caused by many factors, particularly genetic variations. These include 18p-, 14q deletion,13q deletion, and some vertically transmitted infections. It is part of a group of defects called holoprosencephaly.
Diagnosis
Before birth, cebocephaly may sometimes be diagnosed using ultrasound. After birth, cebocephaly is diagnosed based on the characteristic symptoms. A CT scan may be used to confirm the diagnosis.
Prognosis
Most infants born with cebocephaly die soon after birth.
Epidemiology
Cebocephaly is very uncommon. Some estimates of its prevalence include 1 in 40,000 neonatal deliveries.
History
The word "cebocephaly" is derived from Greek kebos (monkey), and kephale (head).