Cebocephaly

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title: "Cebocephaly" type: doc version: 1 created: 2026-02-28 author: "Wikipedia contributors" status: active scope: public tags: ["congenital-disorders-of-nervous-system"] description: "Form of holoprosencephaly resulting in a single nostril" topic_path: "general/congenital-disorders-of-nervous-system" source: "https://en.wikipedia.org/wiki/Cebocephaly" license: "CC BY-SA 4.0" wikipedia_page_id: 0 wikipedia_revision_id: 0

::summary Form of holoprosencephaly resulting in a single nostril ::

::data[format=table title="Infobox medical condition (new)"]

Field	Value
name	Cebocephaly
image	Cebocephaly (2).png
caption	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
diagnosis	Before birth: ultrasound

| | prognosis | Poor (high mortality) | | frequency | 1 in 40,000 deliveries | ::

| name = Cebocephaly | synonyms = | image = Cebocephaly (2).png | caption = Cebocephaly in a 4-month-old girl as a result of 18p- | pronounce = | field = | symptoms = Close-set eyes, flat nose, single nostril | complications = | onset = | duration = | types = | causes = Genetic conditions, some vertically transmitted infections | risks = | diagnosis = Before birth: ultrasound

After birth: symptoms, CT scan | differential = | prevention = | treatment = | medication = | prognosis = Poor (high mortality) | frequency = 1 in 40,000 deliveries | deaths =

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
• a small, flat nose with a single nostril
• ear abnormalities
• mouth abnormalities (such as microstomia)

The presence of a nasal septum precludes a diagnosis of cebocephaly. Cebocephaly may cause malformations of the sphenoid and ethmoid bones behind the orbit.

Cause

Cebocephaly can be caused by many factors, particularly genetic variations. These include 18p-, 14q deletion, 13q deletion, and some vertically transmitted infections. It is part of a group of defects called holoprosencephaly.

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

References

References

1. (1990). "An anatomic comparison of cebocephaly and ethmocephaly". [[Teratology]].
2. (1 April 1968). "Short Arm Deletion of Chromosome 18 in Cebocephaly". [[American Journal of Diseases of Children]].
3. (2011). "Head and Neck Imaging". Mosby, Elsevier.
4. (1976-08-01). "Further studies on the genetic heterogeneity of cebocephaly.". Journal of Medical Genetics.
5. (1997-09-01). "Prenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly.". Journal of Medical Genetics.
6. (1998). "Prenatal diagnosis of de novo isochromosome 13q associated with microcephaly, alobar holoprosencephaly and cebocephaly in a fetus". Prenatal Diagnosis.
7. (1 September 2005). "A case of holoprosencephaly and cebocephaly associated to torch infection". [[International Journal of Pediatric Otorhinolaryngology]].
8. (1970). "27. CEBOCEPHALY:A Report of Three New Cases". Acta Paediatrica.
9. (1 March 1997). "Cebocephaly, alobar holoprosencephaly, spina bifida, and sirenomelia in a stillbirth.". [[Journal of Medical Genetics]].

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