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Brain Malformations
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Genetics Birth Defects

Brain Malformations

Brain malformations often originate during fetal development due to genetic factors or external exposures, resulting in structural abnormalities in the brain.

Overview

Most brain malformations begin long before a baby is born. Something damages the developing nervous system or causes it to develop abnormally. Sometimes it's a genetic problem. In other cases, exposure to certain medicines, infections, or radiation during pregnancy interferes with brain development. Parts of the brain may be missing, abnormally small or large, or not fully developed.

Treatment and Management

Treatment depends upon the problem. In many cases, treatment only helps with symptoms. It may include:

  • Antiseizure medicines
  • Shunts to drain fluid from the brain
  • Physical therapy

Craniofacial Disorders

There are head malformations that do not involve the brain. Craniofacial disorders are the result of abnormal growth of soft tissue and bones in the face and head. It's common for new babies to have slightly uneven heads, but parents should watch the shape of their baby's head for possible problems.

Frequently Asked Questions

The impact on development varies widely depending on the specific type and location of the malformation. Some children may experience significant delays in motor skills, speech, or cognitive abilities, while others may have normal intelligence but face challenges with coordination or learning. Early intervention services, including physical, occupational, and speech therapy, are crucial for maximizing developmental potential and helping the child achieve their highest possible level of independence.
Standard prenatal ultrasounds, particularly the detailed anatomy scan performed between 18 and 22 weeks of gestation, can often identify structural brain abnormalities such as ventriculomegaly or agenesis of the corpus callosum. In some cases, fetal MRI may be recommended for a more detailed view if the ultrasound findings are ambiguous or if there is a high suspicion of a complex malformation. These imaging tools allow healthcare providers to assess the brain's structure and plan for potential postnatal interventions.
Yes, genetic testing, including chromosomal microarray or whole exome sequencing, can identify underlying genetic mutations or chromosomal abnormalities that cause brain malformations. Identifying a specific genetic cause can provide valuable information for the family regarding the prognosis, potential associated health issues, and the recurrence risk for future pregnancies. Genetic counseling is recommended to interpret these results and discuss options for prenatal testing in subsequent pregnancies.
shunt is a medical device implanted to drain excess cerebrospinal fluid from the brain's ventricles to another part of the body, usually the abdominal cavity, where it can be absorbed. In cases where a brain malformation obstructs the natural flow of fluid, leading to hydrocephalus, the shunt prevents dangerous pressure buildup that could damage brain tissue. Regular monitoring is required to ensure the shunt remains functional and free from infection or blockage.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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