Cebocephaly
Form of holoprosencephaly resulting in a single nostril
From Wikipedia, the free encyclopedia
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.
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After birth: symptoms, CT scan
| 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]
In syndromes
Cebocephaly is associated with Patau syndrome, Hartsfield syndrome, and Smith-Lemli-Opitz syndrome
Diagnosis
Prognosis
Most infants born with cebocephaly die soon after birth.[7]
Epidemiology
History
The word "cebocephaly" is derived from Greek kebos (monkey), and kephale (head).