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.

Genitourinary Birth Defect
Renal agenesis (bilateral), hypospadias (2nd or 3rd degree)

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.

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

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.

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.

CBDRP
Centers for Birth Defects Research & Prevention

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

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.

brain plasticity
Theories based on the idea that the brain may have the ability to use surviving brain cells in a different way to make up for those brain cells that are damaged.