Cebocephaly (from

Greek Greek may refer to: 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 of all kno ...

''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 Prenatal development, develop into two Cerebral hemisphere, hemispheres, typically occurring between the 18th and 28th day of gestati ...

. 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 Human nose, nasal cavity, dividing the two nostrils. It is Depression (kinesiology), depressed by the depressor septi nasi muscle. Structure The fleshy external end of the nasal s ...

). 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 Microstomia () is the medical condition of an abnormally small mouth. Congenital It is a feature of many craniofacial syndromes, including Freeman–Sheldon syndrome and Sheldon-Hall syndromes (or distal arthrogryposis multiplex congenita). It ...

) The presence of a

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

ethmoid The ethmoid bone (; from ) 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 orbit (anatomy), orbits. The cubical (cube-shaped) bone is lightweight due to a sp ...

bones behind the

orbit In celestial mechanics, an orbit (also known as orbital revolution) 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 ...

Cause

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

18p- 18p-, also known as monosomy 18p, deletion 18p syndrome, del(18p) syndrome, partial monosomy 18p, or de Grouchy syndrome 1, is a genetic condition caused by a deletion of all or part of the short arm (the Locus (genetics), p arm) of chromosome 18 ...

, 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 with frequency, frequencies greater than 20 Hertz, kilohertz. This frequency is the approximate upper audible hearing range, limit of human hearing in healthy young adults. The physical principles of acoustic waves apply ...

. After birth, cebocephaly is diagnosed based on the characteristic symptoms. A

CT scan A computed tomography scan (CT scan), formerly called computed axial tomography scan (CAT scan), is a medical imaging technique used to obtain detailed internal images of the body. The personnel that perform CT scans are called radiographers or ...

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