Brain Injury Terms and Definitions

Canavan disease
Canavan disease is an inherited disorder of the central nervous system in which affected individuals cannot break down a compound called N-acetyl-L-aspartic acid (NAA). Canavan disease is one of a group of genetic disorders called the eukodystrophies.

aneurysm
The localized enlargement of a blood vessel, usually an artery, that forms a bulge or sac.

Jackson-Weiss syndrome
Many of the characteristic facial features of Jackson-Weiss syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which can lead to a misshapen skull, widely spaced eyes, and a bulging forehead. Foot abnormalities are the most consistent characteristic, as not all individuals with Jackson-Weiss syndrome have abnormal skull or facial features.

Muenke syndrome
The primary feature of this disease is prematurely fused skull bones along the coronal suture, the growth line which goes over the head from ear to ear. This can result in an abnormally shaped head, wide-set eyes, and flattened cheekbones.

Eye Birth Defect
Anophthalmia/microphthalmia, congenital cataracts, glaucoma

Guillain-Barre (ge-YAH buh-RA) syndrome
An inflammatory disorder in which the body's immune system attacks the nerves outside the brain and spinal cord (peripheral nerves) and, more rarely, parts of the brain itself.

Gastrointestinal Birth Defect
Esophageal atresia and tracheoesophageal fistula, intestinal atresia, biliary atresia

vascular dementia
A common form of dementia that results either from narrowing and blockage of the arteries that supply blood to the brain or by strokes that cause an interruption of blood flow within the brain.

NBDPN
National Birth Defects Prevention Network

Central nervous system Birth Defect
Neural tube defects, hydrocephaly, holoprosencephaly, Dandy-Walker malformation