Brain Injury Terms and Definitions

Eye Birth Defect
Anophthalmia/microphthalmia, congenital cataracts, glaucoma

Spina bifida
Is a condition that often has disabling consequences. With severe spina bifida, a person’s legs and feet are paralyzed, and there are problems with bowel and bladder control. Learning disabilities are common, and mental retardation sometimes occurs

Ear Birth Defect
Anotia/microtia

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.

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.

cerebral palsy
A disorder caused by injury to the cerebral area of the brain that occurs before or during birth or in the first few months after birth. Damage to the cerebrum may cause paralysis (palsy) in one or more parts of the body.

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.

NCEH
National Center for Environmental Health

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

cerebellum
The portion of the brain mainly responsible for balance and coordination.