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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.
| Cebocephaly | |
|---|---|
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| 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 causes:
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]
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]
Before birth, cebocephaly may sometimes be diagnosed using ultrasound.[6][7] After birth, cebocephaly is diagnosed based on the characteristic symptoms.[7] A CT scan may be used to confirm the diagnosis.[7]
Most infants born with cebocephaly die soon after birth.[7]
Cebocephaly is very uncommon.[9] Some estimates of its prevalence include 1 in 40,000 neonatal deliveries.[1]
The word "cebocephaly" is derived from Greek kebos (monkey), and kephale (head).
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