National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Encephalocele is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Encephaloceles are rare birth defects associated with skull defects characterized by partial lacking of bone fusion leaving a gap through which a portion of the brain sticks out (protrudes). In some cases, cerebrospinal fluid or the membranes that cover the brain (meninges) may also protrude through this gap. The portion of the brain that sticks outside the skull is usually covered by skin or a thin membrane so that the defect resembles a small sac. Protruding tissue may be located on any part of the head, but most often affects the back of the skull (occipital area). Most encephaloceles are large and significant birth defects that are diagnosed before birth. However, in extremely rare cases, some encephaloceles may be small and go unnoticed. The exact cause of encephaloceles is unknown, but most likely the disorder results from the combination of several factors (multifactorial).
Encephaloceles are classified as neural tube defects. The neural tube is a narrow channel in the developing fetus that allows the brain and spinal cord to develop. The neural tube folds and closes early during pregnancy (third or fourth week) to complete the formation of the brain and spinal cord. A neural tube defect occurs when the neural tube does not close completely, which can occur anywhere along the head, neck or spine. The lack of proper closing of the neural tube can lead to a herniation process which appears as a pedunculated (having a stalk-like base) or sessile (attached directly to its base without a stalk) cystic lesion protruding through a defect in the cranial vault referred as encephalocele. They may contain herniated meninges and brain tissue (encephalocele or meningoencephalocele) or only meninges (cranial meningocele). Encephaloceles containing tissue from the brain and spinal cord are called encephalomyeloceles.
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- Website: http://www.ameriface.org
Birth Defect Research for Children, Inc.
- 976 Lake Baldwin Lane
- Orlando, FL 32814
- Tel: (407)895-0802
- Email: email@example.com
- Website: http://www.birthdefects.org
Children's Craniofacial Association
- 13140 Coit Road
- Suite 517
- Dallas, TX 75240
- Tel: (214)570-9099
- Fax: (214)570-8811
- Tel: (800)535-3643
- Email: contactCCA@ccakids.com
- Website: http://www.ccakids.com
FACES: The National Craniofacial Association
- PO Box 11082
- Chattanooga, TN 37401
- Tel: (423)266-1632
- Fax: (423)267-3124
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- Email: firstname.lastname@example.org
- Website: http://www.faces-cranio.org
Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
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- Fax: (301)251-4911
- Tel: (888)205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
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- Website: http://www.hydroassoc.org
NIH/National Institute of Neurological Disorders and Stroke
- P.O. Box 5801
- Bethesda, MD 20824
- Tel: (301)496-5751
- Fax: (301)402-2186
- Tel: (800)352-9424
- Website: http://www.ninds.nih.gov/
National Hydrocephalus Foundation
- 12413 Centralia Rd.
- Lakewood, CA 90715-1653
- Tel: (562)924-6666
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- Tel: (888)857-3434
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- Website: http://www.nhfonline.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email email@example.com
Last Updated: 12/25/1969
Copyright 2012 National Organization for Rare Disorders, Inc.
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