Cebocephaly Explained

Cebocephaly
Symptoms:	Close-set eyes, flat nose, single nostril
Causes:	Genetic conditions, some vertically transmitted infections
Diagnosis:	Before birth: ultrasound After birth: symptoms, CT scan
Prognosis:	Poor (high mortality)
Frequency:	1 in 40,000 deliveries

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^[1]
• a small, flat nose with a single nostril
• ear abnormalities^[2]
• mouth abnormalities (such as microstomia)

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.

Cause

Cebocephaly can be caused by many factors, particularly genetic variations.^[4] These include 18p-, 14q deletion,^[5] 13q deletion,^[6] and some vertically transmitted infections.^[7] It is part of a group of defects called holoprosencephaly.^[8]

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.^[9] 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).

See also

• Cephalic disorder

Notes and References

1. Souza. James P.. Siebert. Joseph R.. Beckwith. J. Bruce. 1990. An anatomic comparison of cebocephaly and ethmocephaly. Teratology. en. 42. 4. 347–357. 10.1002/tera.1420420404. 2255999 . 1096-9926.
2. Gorlin. Robert J.. Yunis. Jorge. Anderson. V. Elving. 1 April 1968. Short Arm Deletion of Chromosome 18 in Cebocephaly. American Journal of Diseases of Children. 115. 4. 473–476. 10.1001/archpedi.1968.02100010475012. 5642351 . 0002-922X.
3. Book: Som. Peter M.. Head and Neck Imaging. 2011. Mosby, Elsevier. 5. 3–97.
4. Lazjuk. G. I.. Lurie. I. W.. Nedzved. M. K.. 1976-08-01. Further studies on the genetic heterogeneity of cebocephaly.. Journal of Medical Genetics. en. 13. 4. 314–318. 1013422. 10.1136/jmg.13.4.314. 0022-2593. 957381.
5. Chen. C. P.. Lee. C. C.. Chen. L. F.. Chuang. C. Y.. Jan. S. W.. Chen. B. F.. 1997-09-01. Prenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly.. Journal of Medical Genetics. en. 34. 9. 777–778. 1051067. 10.1136/jmg.34.9.777. 0022-2593. 9321769.
6. Chen. Chih-Ping. Chern. Schu-Rern. Lee. Chen-Chi. Chen. Li-Feng. Chuang. Chun-Yu. Chen. Ming-Hong. 1998. Prenatal diagnosis of de novo isochromosome 13q associated with microcephaly, alobar holoprosencephaly and cebocephaly in a fetus. Prenatal Diagnosis. en. 18. 4. 393–398. 10.1002/(SICI)1097-0223(199804)18:4<393::AID-PD277>3.0.CO;2-Q. 9602489 . 29381726 . 1097-0223.
7. Kilic. Nizamettin. Yazici. Zeynep. 1 September 2005. A case of holoprosencephaly and cebocephaly associated to torch infection. International Journal of Pediatric Otorhinolaryngology. en. 69. 9. 1275–1278. 10.1016/j.ijporl.2005.03.018. 16061113 . 0165-5876.
8. Valkeakari. T.. Anttila. R.. 1970. 27. CEBOCEPHALY:A Report of Three New Cases. Acta Paediatrica. en. 59. S206. 147–148. 10.1111/j.1651-2227.1970.tb14669.x. 5276963 . 72634209 . 1651-2227.
9. Chen. C. P.. Shih. S. L.. Liu. F. F.. Jan. S. W.. 1 March 1997. Cebocephaly, alobar holoprosencephaly, spina bifida, and sirenomelia in a stillbirth.. Journal of Medical Genetics. en. 34. 3. 252–255. 1050904. 10.1136/jmg.34.3.252. 0022-2593. 9132501.