Cebocephaly (from

Greek Greek may refer to: Greece Anything of, from, or related to Greece, a country in Southern Europe: *Greeks, an ethnic group. *Greek language, a branch of the Indo-European language family. **Proto-Greek language, the assumed last common ancestor ...

''kebos'', "monkey" + ''kephale'', "head") is a developmental anomaly that is part of a group of defects called

holoprosencephaly Holoprosencephaly (HPE) is a cephalic disorder in which the prosencephalon (the forebrain of the embryo) fails to develop into two hemispheres, typically occurring between the 18th and 28th day of gestation. Normally, the forebrain is formed an ...

. Cebocephaly involves the presence of two separate eyes set close together and a small, flat nose with a single nostril (no

nasal septum The nasal septum () separates the left and right airways of the nasal cavity, dividing the two nostrils. It is depressed by the depressor septi nasi muscle. Structure The fleshy external end of the nasal septum is called the columella or co ...

). 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 * ear abnormalities * mouth abnormalities (such as microstomia) The presence of a

precludes a diagnosis of cebocephaly. Cebocephaly may cause malformations of the sphenoid and

ethmoid The ethmoid bone (; from grc, ἡθμός, hēthmós, sieve) is an unpaired bone in the skull that separates the nasal cavity from the brain. It is located at the roof of the nose, between the two orbits. The cubical bone is lightweight due to a ...

bones behind the

orbit In celestial mechanics, an orbit is the curved trajectory of an object such as the trajectory of a planet around a star, or of a natural satellite around a planet, or of an artificial satellite around an object or position in space such as ...

Cause

Cebocephaly can be caused by many factors, particularly genetic variations. These include

18p- 18p- is a genetic condition caused by a deletion of all or part of the short arm (the p arm) of chromosome 18. It occurs in about 1 of every 50,000 births. Signs and symptoms 18p- causes a wide range of medical and developmental concerns. Th ...

, 14q deletion, 13q deletion, and some

vertically transmitted infections A vertically transmitted infection is an infection caused by pathogenic bacteria or viruses that use mother-to-child transmission, that is, transmission directly from the mother to an embryo, fetus, or baby during pregnancy or childbirth. It can ...

. It is part of a group of defects called

Diagnosis

Before birth, cebocephaly may sometimes be diagnosed using

ultrasound Ultrasound is sound waves with frequencies higher than the upper audible limit of human hearing. Ultrasound is not different from "normal" (audible) sound in its physical properties, except that humans cannot hear it. This limit varies ...

. 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

''kebos'' (monkey), and ''kephale'' (head).

References

{{Reflist Congenital disorders of nervous system