Cebocephaly
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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<ref name=":1">Template:Cite journal</ref>
- a small, flat nose with a single nostril<ref name=":1" />
- ear abnormalities<ref name=":0">Template:Cite journal</ref>
- mouth abnormalities (such as microstomia)<ref name=":1" />
The presence of a nasal septum precludes a diagnosis of cebocephaly.<ref>Template:Cite book</ref> Cebocephaly may cause malformations of the sphenoid and ethmoid bones behind the orbit.<ref name=":1" />
Cause
Cebocephaly can be caused by many factors, particularly genetic variations.<ref>Template:Cite journal</ref> These include 18p-,<ref name=":0" /> 14q deletion,<ref>Template:Cite journal</ref> 13q deletion,<ref name=":3">Template:Cite journal</ref> and some vertically transmitted infections.<ref name=":2">Template:Cite journal</ref> It is part of a group of defects called holoprosencephaly.<ref name=":2" /><ref>Template:Cite journal</ref>
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.<ref name=":3" /><ref name=":2" /> After birth, cebocephaly is diagnosed based on the characteristic symptoms.<ref name=":2" /> A CT scan may be used to confirm the diagnosis.<ref name=":2" />
Prognosis
Most infants born with cebocephaly die soon after birth.<ref name=":2" />
Epidemiology
Cebocephaly is very uncommon.<ref>Template:Cite journal</ref> Some estimates of its prevalence include 1 in 40,000 neonatal deliveries.<ref name=":1" />
History
The word "cebocephaly" is derived from Greek kebos (monkey), and kephale (head).