Iniencephaly
Iniencephaly (pronounced: in-ee-en-sef-uh-lee) is a rare neural tube defect that affects the brain and spine of a developing fetus. The term is derived from the Greek words 'inion' meaning the back of the head, and 'encephalon' meaning brain.
Definition
Iniencephaly is characterized by extreme retroflexion (backward bending) of the head with severe defects in the spine. The skin of the face is connected directly to the skin of the chest and the scalp is directly connected to the skin of the back. Usually, the neck is absent.
Causes
The exact cause of iniencephaly is unknown. However, it is believed to occur during the early stages of fetal development, specifically during the formation of the neural tube. Some researchers suggest that a combination of genetic, nutritional (specifically, a deficiency in folic acid), and environmental factors may contribute to its occurrence.
Symptoms
The symptoms of iniencephaly include a short neck, large head, flat face, and protruding eyes. The condition is also associated with other anomalies such as anencephaly, hydrocephalus, cleft lip/cleft palate, cardiac defects, and renal agenesis.
Diagnosis
Iniencephaly can be diagnosed during pregnancy through an ultrasound examination. The condition is often evident due to the abnormal position of the fetus' head and the presence of spinal defects.
Prognosis
Iniencephaly is a fatal condition. Most infants with iniencephaly are stillborn or die shortly after birth. There is no known cure or standard treatment for iniencephaly.
Prevention
While iniencephaly cannot be prevented, the risk can be reduced by taking folic acid supplements before and during pregnancy.
See also
External links
- Medical encyclopedia article on Iniencephaly
- Wikipedia's article - Iniencephaly
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