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.

neural tube defect
A structure in early fetal life that develops into the brain, spinal cord, spinal nerves and spine.

Musculoskeletal Birth Defect
Diaphragmatic hernia, gastroschisis, omphalocele, limb deficiency, craniosynostosis, bladder exstrophy, cloacal exstrophy, sacral agenesis/caudal regression.

closed head injury
An injury to the head or brain in which the skull remains intact.

Pfeiffer syndrome
Many of the characteristic facial features of Pfeiffer syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to bulging and wide-set eyes, an underdeveloped upper jaw, and a beaked nose.

acetylcholine (ACH)
A chemical in the body that carries messages between the nerves and muscles; a neurotransmitter.

hypothalamus
The part of the brain that controls body functions such as eating, sleeping and sexual behavior, maintains body temperature and chemical balance, and regulates many hormones.

NBDPN
National Birth Defects Prevention Network

Crouzonodermoskeletal syndrome
Crouzonodermoskeletal syndrome is a genetic disorder characterized by the remature joining of certain bones of the skull (craniosynostosis) and a skin disorder called acanthosis nigricans.

Pantothenate kinase-associated neurodegeneration
Pantothenate kinase-associated neurodegeneration (formerly called Hallervorden-Spatz syndrome) is a disorder of the nervous system. The condition is characterized by progressive difficulty with movement and speech