National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Meningoencephalocele


Other Names:
Encephalomeningocele
Meningoencephalocele is a type of encephalocele, which is an abnormal sac of fluid, brain tissue, and meninges (membranes that cover the brain and spinal cord) that extends through a defect in the skull. There are two main types of meningoencephalocele, which are named according to the location of the sac. The frontoethmoidal type is located at the frontal and ethmoid bones while the occipital type is located at the occipital bone. Hydrocephalus, abnormalities of the eyeball and tear duct, and other findings have been associated with the condition.[1][2] Some affected individuals have intellectual or physical disabilities while others have normal development and abilities.[3] The condition is typically congenital (present at birth) but has been reported to develop by chance in older individuals in rare cases.[4] The underlying cause of the condition is uncertain, but environmental factors are thought to play a role. Treatment depends on the size, location and severity of the defect but mainly includes magnetic resonance imaging (MRI) to determine the severity of the defect, followed by surgery to repair it.[1][2]
Last updated: 4/27/2016
The exact cause of meningoencephalocele is not known. Some studies have suggested that environmental factors could play a role in causing the condition. Exposure during pregnancy to aflatoxins, toxins produced by a mold that grows in nuts, seeds, and legumes, has been proposed to be a possible cause in some cases. However, its potential role in causing the condition is unclear. It has also been suggested that folate deficiency during pregnancy might play a role, because the condition is so closely related to spina bifida, which can be caused by folate deficiency. However, there have been no studies regarding the relationship of maternal folate deficiency and meningoencephalocele.[1] There might additionally be some underlying genetic factors given evidence of familial clustering and cases of meningoencephalocele identified in individuals with an underlying genetic disorder.[5][6] Further studies are needed to to clarify what may cause the meningoencephalocele.
Last updated: 4/27/2016
Meningoencephalocele is not thought to be an inherited condition. Studies have proposed that meningoencephalocele is likely a multifactorial defect. This means that both environmental factors and multiple genes may interact with each other to cause the condition. Studies have suggested that environmental factors probably play an important role. This information is supported by the fact that several studies have not identified the condition among close relatives of affected individuals. To date, there have been no genes identified that are likely to play a strong part in causing the condition.[1]
Last updated: 4/27/2016
The prognosis for each individual with meningoencephalocele depends on the size and location of the sac, whether brain tissue is present in the sac, and if other brain abnormalities are also present.[2] Survival is generally better when brain tissue is not involved in the sac.[7] Individuals with encephaloceles located in the face (at the frontal and nasal bones) tend to have better survival and development than those located at the back of the head (at the occipital and parietal bones).[8][7] Several studies have found that approximately two-thirds (66%) of individuals with meningoencephalocele in the back of the head survive; of those survivors, approximately half have normal intelligence. Infections, such as meningitis, may develop and could also affect the outcome.[7][2]


Last updated: 4/27/2016

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Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Meningoencephalocele. Click on the link to view a sample search on this topic.

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  • My newborn daughter has been diagnosed with a meningoencephalocele in the back of her head. Can she survive with this condition? How long can she survive? See answer

  • What causes an infant to be born with this condition? My 9 month old baby boy had surgery to repair this after months of us being told he had allergies, although it was clear he had an obstruction in his nasal cavity and he was not able to breath well since birth. Also, is this a hereditary condition? How many infants are diagnosed with this? What are the long term affects even after repair? See answer


  1. Sitthiporn Agthong and Viroj Wiwanitkit. Encephalomeningocele cases over 10 years in Thailand: a case series. BMC Neurology. 2002; 2:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC113760/.
  2. Kiymaz N, Yilmaz N, Demir I, Keskin S. Prognostic Factors in Patients with Occipital Encephalocele. Pediatric neurosurgery 2010. 2010; 46(1):6-11. http://www.ncbi.nlm.nih.gov/pubmed/20453557.
  3. Meling TR, Due-Tønnessen BJ, Helseth E, Skjelbred P, Arctander K. [Frontoethmoidal meningoencephaloceles]. Tidsskr Nor Laegeforen. August 20, 2000; 120(19):2250-2252. http://www.ncbi.nlm.nih.gov/pubmed/10997082.
  4. Nahas Z. Spontaneous meningoencephalocele of the temporal bone: clinical spectrum and presentation. Arch Otolaryngol Head Neck Surg. May 1, 2008; 134(5):509-518. http://www.ncbi.nlm.nih.gov/pubmed/18490573.
  5. Meloni VA, Moysés-Oliveira M, Melo MC, Caneloi TP, Dantas AG, Soares MF, Fock R, Rodrigues de Nicola PD, Dias-da-Silva MR, Melaragno MI. Novel homozygous ALX4 mutation causing frontonasal dysplasia-2 in a patient with meningoencephalocele. ClinGen. May 11 2015; 88(6):593-6. http://www.ncbi.nlm.nih.gov/pubmed/25963140.
  6. Suphapeetiporn K1, Mahatumarat C, Rojvachiranonda N, Taecholarn C, Siriwan P, Srivuthana S, Shotelersuk V. Risk factors associated with the occurrence of frontoethmoidal encephalomeningocele. European Journal of Medical Genetics. Mar 12 2008; 12(2):102-7. http://www.ncbi.nlm.nih.gov/pubmed/17869141.
  7. Mealey J, Dzenitis AJ, Hockey AA. The prognosis of encephaloceles. Journal of Neurosurgery. 1970; 32(2):209-218. http://www.ncbi.nlm.nih.gov/pubmed/5411997.
  8. Hoving EW. Nasal encephaloceles. Childs Nerv Syst. November 2000; 16(10-11):702-706. http://www.ncbi.nlm.nih.gov/pubmed/11151720.