Brain Injury Terms and Definitions

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.

Alexander disease
Alexander disease is considered one of the leukodystrophies, a group of disorders where the primary abnormality is the inability to maintain the fatty covering (myelin) that insulates nerve fibers in the brain. Alexander disease is a rare disorder of the nervous system that usually begins during infancy or early childhood.

CBDMP
California Birth Defects Monitoring Program

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.

amygdala
uh-MIG-duh-luh). A part of the brain that oversees emotions and triggers your response to danger.

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

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.

brain
The part of the central nervous system inside the skull. Its functions include muscle control and coordination, sensory reception and integration, speech production, memory storage and the elaboration of thought and emotion.

Apert syndrome
Apert Syndrome is a genetic defect and falls under the broad classification of craniofacial/limb anomalies. It can be inherited from a parent who has Apert, or may be a fresh mutation. It occurs in approximately 1 per 160,000 to 200,000 live births. Apert syndrome is primarily characterized by specific malformations of the skull, midface, hands, and feet.

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.