Q00-Q07: Congenital malformations of the nervous system

Q01: Encephalocele

Encephalocele is a rare type of birth defect of the neural tube that affects the brain. In this condition, a sac-like protrusion or pocket of the brain and the membranes that cover it bulge out through an opening in the skull. This opening often occurs at the back of the skull; in rare cases, it can be at the front part. The exact cause of encephalocele is unknown, however, like most neural tube defects, a combination of genetic, nutritional, and environmental factors may play a role in its occurrence. Symptoms and the severity vary largely. It can cause hydrocephalus (fluid buildup in the brain), developmental delay, growth problems, seizures, vision problems, and motor skill impairment. The defects are usually noticed at birth or revealed by imaging studies conducted for other reasons.