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DA: 148

Developmental anomaly information

Definition: Encephalocele represents one end of the spectrum of open neural tube diagnoses.The diagnosis is based on the herniation of a spherical, fluid-filled structure, more correctly diagnosed as a meningocele or brain parenchyma (encephalocele) beyond the calvarial confines. The primary abnormality in the development of an encephalocele is a mesodermal defect resulting in a defect in the calvarium and dura that is associated with herniation of CSF, brain tissue, and meninges through the defect. The root cause of an encephalocele is the failure of surface ectoderm to separate from the neuroectoderm early in embryonic development. In the calvarium, induction of bone formation may be defective, or pressure erosion from an intracranial mass may occur. Defects at the skull base may be related to faulty closure of the neural tube or to failure of basilar ossification. Encephaloceles may be occipital (75%), fronto-ethmoidal (13-15%), parietal (10-12%), or sphenoidal. Fronto-ethmoidal encephaloceles are most common in Asia.


  • open neural tube,

Developmental anomaly parent: (empty)

Topology: Human body > Head and neck > Head

System: Human body > Nervous system > Central nervous system

Developmental anomaly category: Malformation

Case records MDB12, MDB86

Humpath: 5231

Observed in MDB cases
Observed in combinaisons (MDB)
Observed in malformative diseases (MDB)
Associated genes in profile
Associated genes in malformative diseases
Associated chromosomal diseases
Associated signaling pathways
Associated developmental anomalies

Here is the list of developmental anomalies associated with this developmental anomaly, based on the cases' information :

Last modified: 2008-10-15 17:36:01 by farideh

Created: 2008-03-19 01:00:00 by phsaw

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