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
- mouth abnormalities (such as microstomia) Cebocephaly may cause malformations of the sphenoid and ethmoid bones behind the orbit. These include 18p-, 13q deletion, and some vertically transmitted infections. It is part of a group of defects called holoprosencephaly.
In syndromes
Cebocephaly is associated with Patau syndrome, Hartsfield syndrome, and Smith-Lemli-Opitz syndrome
Diagnosis
Before birth, cebocephaly may sometimes be diagnosed using ultrasound. Some estimates of its prevalence include 1 in 40,000 neonatal deliveries.