What is Encephalocele

An encephalocele is a rare neural tube defect where a sac-like protrusion of the brain and its protective membranes extends through an opening in the skull. This condition occurs when the neural tube fails to close completely during early fetal development, resulting in a structural gap that requires specialized medical intervention.

What causes an encephalocele to develop?

An encephalocele results from a failure of the neural tube to fuse properly during the first few weeks of pregnancy. While the exact cause is often unknown, it is considered a multifactorial condition involving a combination of genetic predispositions and environmental influences. The resulting gap in the skull allows brain tissue to herniate outward, which can affect the central nervous system and surrounding structures.

How is an encephalocele classified?

Medical professionals classify an encephalocele based on the location of the skull defect and the contents of the protruding sac:

• Occipital: The most common type in Western countries, located at the back of the head.


• Frontal/Basal: Located near the forehead or the base of the skull, which may affect the nasal cavity.


• Parietal: Located at the top or side of the skull.


• Meningocele vs. Encephalocele: A meningocele contains only membranes and fluid, whereas an encephalocele contains actual brain tissue.

How common is this condition?

The prevalence of an encephalocele is estimated to be approximately 1 in every 5,000 to 10,000 live births worldwide. It is a congenital condition, meaning it is present at birth. While it occurs in both sexes, the location and severity of the encephalocele can vary significantly between individuals, with some cases showing minor structural anomalies and others involving complex neurological challenges.

What differentiates an encephalocele from other defects?

Unlike spina bifida, which affects the spinal column, an encephalocele specifically involves the cranium. At DiseaseMaps.org, 27 community members have shared their experiences with this condition, highlighting the importance of multidisciplinary care involving neurosurgeons, neurologists, and geneticists to manage the unique needs of each patient.

Next steps

• Consult a pediatric neurosurgeon to discuss imaging and surgical management.


• Connect with the community at DiseaseMaps.org to learn from others navigating this diagnosis.


• Work with a genetic counselor to understand potential recurrence risks for future pregnancies.


• Seek a referral to a craniofacial center for specialized, long-term developmental support.

Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Encephalocele Overview.


• Orphanet: Rare Disease Database (ORPHA: 2802).


• Online Mendelian Inheritance in Man (OMIM): Entry #210350.


• CDC: Facts about Neural Tube Defects.