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MCID: ENC017
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Encephaloceles malady |
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Sources: 31NINDS, 22MalaCards See all sources Export this MalaCard |
NINDS: 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 (excessive accumulation of cerebrospinal fluid in the brain), (paralysis of the arms and legs), (abnormally small head), (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.31
MalaCards: Encephaloceles is related to knobloch syndrome and bardet-biedl syndrome. An important gene associated with Encephaloceles is COL18A1 (collagen, type XVIII, alpha 1). Affiliated tissues include brain and fetal brain, and related mouse phenotypes are renal/urinary system and craniofacial. |
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Sources: 31NINDS See all sources |
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials See all sources |
Approved drugs:Search CenterWatch for encephaloceles Drug clinical trials:Search ClinicalTrials for encephaloceles Search NIH Clinical Center for encephaloceles Search CenterWatch for encephaloceles |
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Sources: 22MalaCards See all sources |
MalaCards organs/tissues related to encephaloceles:22Brain, Fetal brain
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Sources: 25MGI See all sources |
MGI Mouse Phenotypes related to encephaloceles:25
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Sources: 35PubMed See all sources |
Articles related to encephaloceles:
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Sources: 1BioGPS See all sources |
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Sources: 12Gene Ontology See all sources |
Cellular components related to encephaloceles according to GeneDecks:
Biological processes related to encephaloceles according to GeneDecks:
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