Rare: 1/10.000 births. Unknown mode of transmission and pathogeny.

Association of 2 or more of the following abnormalities:

-        neural tube defect: anencephaly, encephalocele, spina bifida

-        oral cleft: cleft lip and/or palate, posterior cleft palate

-        omphalocele

-        diaphragmatic hernia.

The most frequent forms are: neural tube defect + oral cleft (67.5%), anencephaly and cleft palate (8.3 %); and anencephaly and omphalocele (6.6 %)

This condition is more common among girls (2/3 of cases) and is often associated with premature birth. It is lethal in 70 % of cases.

Anesthetic implications:

major neonatal surgery.

References: 

Updated: September 2018