Cebocephaly
Cebocephaly 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. 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 causes:
- two separate eyes set close together
- a small, flat nose with a single nostril
- ear abnormalities
- mouth abnormalities
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.
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. 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, and kephale.