Anencephaly

Also known as: open skull.

What is anencephaly?

Anencephaly is a birth defect that affects the developing brain and skull bones of newborn babies. This results in only a very small part of the brain developing and only parts of the baby’s bony skull to be present.

What causes anencephaly?

During pregnancy the baby’s brain begins as a flat plate of cells which forms a tube called the neural tube. If the tube doesn't close properly it causes a number of defects (known as open neural tube defects or ONTD) of which anencephaly is among the commonest.

It appears that anencephaly mostly occurs spontaneously without a family history of the problem; however inherited genes from both parents, and environmental and other factors may play a role.

What are the signs/symptoms of anencephaly?

Signs/symptoms include very small brain, with some basic reflexes only present as there is no higher part of the brain, absence/missing skull bones, abnormal ears, heart and palate abnormalities.

What are anencephaly care options?

As there is no treatment or cure for anencephaly, management aims at making the baby as comfortable as possible with support for parents and family. Babies usually will not survive for more than a few days/weeks.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: November 18, 2021 02:47 PM