Ethmocephaly

Ethmocephaly

Ethmocephaly is a type of cephalic disorder caused by holoprosencephaly. Ethmocephaly is the least common facial anomaly. It consists of a proboscis separating narrow-set eyes with an absent nose and microphthalmia (abnormal smallness of one or both eyes). Cebocephaly, another facial anomaly, is characterized by a small, flattened nose with a single nostril situated below incomplete or underdeveloped closely set eyes.

The least severe in the spectrum of facial anomalies is the median cleft lip, also called premaxillary agenesis.

Although the causes of most cases of holoprosencephaly remain unknown, some may be due to dominant or chromosome causes. Such chromosomal anomalies as trisomy 13 and trisomy 18 have been found in association with holoprosencephaly, or other neural tube defects. Genetic counseling and genetic testing, such as amniocentesis, is usually offered during a pregnancy if holoprosencephaly is detected. The recurrence risk depends on the underlying cause. If no cause is identified and the fetal chromosomes are normal, the chance to have another pregnancy affected with holoprosencephaly is about 6%.

There is no treatment for holoprosencephaly and the prognosis for individuals with the disorder is poor. Most of those who survive show no significant developmental gains. For children who survive, treatment is symptomatic. It is possible that improved management of diabetic pregnancies may help prevent holoprosencephaly, however there is no means of primary prevention.

ee also

*holoprosencephaly
*cephalic disorder
*cyclopia

External links

* [http://www.thefetus.net/page.php?id=1394 TheFetus.net]


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Look at other dictionaries:

  • ethmocephaly — eth·mo·ceph·a·ly (eth″mo sefґə le) [Gr. ēthmos sieve + cephaly] a congenital anomaly in which a fetus has an imperfect head, more or less union of the eyes, and a rudimentary nose that may be displaced upward …   Medical dictionary

  • Cephalic disorder — Classification and external resources ICD 10 Q00 Q07, Q67, Q75 ICD 9 740 742 Cephalic disorders (from the …   Wikipedia

  • holoprosencephaly — noun A congenital disorder involving insufficient division of the lobes of the brain during fetal development, resulting in skull and facial deformities ranging from minor cleft lip problems to cyclopia, in which a single eye develops where the… …   Wiktionary

  • Holoprosencephaly — A disorder characterized by the failure of the prosencephalon (the forebrain of the embryo) to develop. During normal development, the forebrain is formed and the face begins to develop in the fifth and sixth weeks of pregnancy. Holoprosencephaly …   Medical dictionary

  • proboscis — 1. A long flexible snout, such as that of a tapir or an elephant. 2. In teratology, a cylindric protuberance of the face that, in cyclopia or ethmocephaly, represents the nose. [G. proboskis, a means of providing food, fr. pro + boskein, to feed] …   Medical dictionary

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