Cebocephaly
| 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.