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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Encephalocele


Other Names for this Disease
  • Bifid cranium
  • Cephalocele
  • Craniocele
  • Cranium bifidum
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Overview


Encephaloceles are rare neural tube defects characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. These defects are caused by failure of the neural tube to close completely during fetal development. The result is a groove down the midline of the upper part of the skull, or the area between the forehead and nose, or the back of the skull. When located in the back of the skull, encephaloceles are often associated with neurological problems. Encephaloceles are usually dramatic deformities diagnosed immediately after birth; but occasionally a small encephalocele in the nasal and forehead region can go undetected. There is a genetic component to the condition; it often occurs in families with a history of spina bifida and anencephaly in other family members.[1]
Last updated: 10/21/2011

References

  1. NINDS Encephaloceles Information Page. NINDS. February 2007; http://www.ninds.nih.gov/disorders/encephaloceles/encephaloceles.htm. Accessed 10/21/2011.
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Basic Information

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  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Encephalocele. Click on the link to view a sample search on this topic.