Encephaloceles
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What are Encephaloceles?
Is there any treatment?
What is the prognosis?
What research is being done?
Organizations
What are Encephaloceles?
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. Usually encephaloceles are dramatic deformities diagnosed immediately after birth, but occasionally a small encephalocele
in the nasal and forehead region can go undetected. Encephaloceles are often accompanied by craniofacial abnormalities or
other brain malformations. Symptoms and associated abnormalities of encephaloceles may include hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain), spastic quadriplegia (paralysis of the arms and legs), microcephaly (abnormally small head), ataxia (uncoordinated movement of the voluntary muscles, such as those involved in walking and reaching), developmental delay, vision
problems, mental and growth retardation, and seizures. Some affected children may have normal intelligence. There is a genetic
component to the condition; it often occurs in families with a history of spina bifida and anencephaly in family members.
Is there any treatment?
What is the prognosis?
What research is being done?
Select this link to view a list of studies currently seeking patients.
Birth Defect Research for Children, Inc. 800 Celebration Avenue Suite 225 Celebration, FL 34747 betty@birthdefects.org http://www.birthdefects.org Tel: 407-566-8304 Fax: 407-566-8341 |
March of Dimes Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 askus@marchofdimes.com http://www.marchofdimes.com Tel: 914-428-7100 888-MODIMES (663-4637) Fax: 914-428-8203 |
National Organization for Rare Disorders (NORD) P.O. Box 1968 (55 Kenosia Avenue) Danbury, CT 06813-1968 orphan@rarediseases.org http://www.rarediseases.org Tel: 203-744-0100 Voice Mail 800-999-NORD (6673) Fax: 203-798-2291 |
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Last updated February 12, 2007