Q00.2: Iniencephaly

There is a severe congenital malformation at the junction of the cervical spine and skull.

The spine consists of several sections. The cervical spine begins below the head. The vertebrae form the spinal canal on the rear of the spinal column. The spinal cord runs in the spinal canal. Nerve fibers run from the brain into the body via the spinal cord and form nerves there. Every nerve is responsible for a particular part of the skin and for certain muscles. These nerves are important for instance in enabling you to feel and move the muscles. The brain is surrounded by a protective shell of bone, known as the skull or cranium. The skull is connected to the vertebrae of the cervical spine.

While developing in the womb, many different types of tissue develop in the body. The organs and body parts develop out of the various types of tissue. If tissue fails to develop properly, defects can occur.

This malformation means that the junction of the cervical spine and skull doesn’t develop properly, which will result in the vertebrae being partially or completely missing. The skull may also not be closed properly. This can mean that the brain and spinal cord are exposed and can become damaged. The head may also be tilted back in an unusual position. It is also possible that your heart or your digestive tract is not properly developed.

The causes of this defect are as yet unknown. Such a severe defect is not usually not compatible with life.