Brain Injury Terms and Definitions

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

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

stroke
A condition produced by a blood clot that lodges in an artery and blocks the flow of blood to a portion of the brain, producing symptoms ranging from paralysis of limbs and loss of speech to unconsciousness and death. Less commonly, a stroke may be the result of bleeding into the substance of the brain.

SADDAN
SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare inherited disorder of bone growth characterized by skeletal, brain, and skin abnormalities.

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.

BDPM
Birth Defects Monitoring Program

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

amyotrophic lateral sclerosis (ALS)
Also known as Lou Gehrig's disease, ALS causes degeneration of the nerve cells in certain regions of the brain and spinal cord that control the muscles.

Ear Birth Defect
Anotia/microtia

Orofacial Birth Defect
Choanal atresia, cleft lip, cleft palate