Schizencephaly
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 9 |
OrphanetNr: | 799 |
OMIM Id: |
269160
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ICD-10: |
Q04.6 |
UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
253159001 |
Prevalence, inheritance and age of onset:
Prevalence: | 1.5 of 100 000 [Orphanet] |
Inheritance: |
Autosomal dominant Autosomal recessive [Orphanet] |
Age of onset: |
Antenatal Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Cerebral malformation with epilepsy
-Rare genetic disease -Rare neurologic disease Encephaloclastic disorder -Rare developmental defect during embryogenesis -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0000486) | Strabismus | Very frequent [Orphanet] | 576 / 7739 | |||
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(HPO:0001250) | Seizures | Frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0002353) | EEG abnormality | Very frequent [Orphanet] | 188 / 7739 | |||
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(HPO:0001276) | Hypertonia | Very frequent [Orphanet] | 317 / 7739 | |||
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(HPO:0004374) | Hemiplegia/hemiparesis | Frequent [Orphanet] | 158 / 7739 | |||
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(HPO:0002132) | Porencephaly | Very frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0010636) | Schizencephaly | 5 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0007370) | Aplasia/Hypoplasia of the corpus callosum | Very frequent [Orphanet] | 180 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Description: (OMIM) |
Brunelli et al. (1996) described schizencephaly as an extremely rare congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. The clefts are lined with gray matter and most commonly involve the parasylvian regions (Wolpert and Barnes, ... |
Clinical Description OMIM |
Schizencephaly is a brain malformation characterized by infolding of cortical gray matter along a hemispheric cleft near the primary cerebral fissures. The malformation was described by Yakovlev and Wadsworth (1946) who coined the term schizencephaly. Schizencephaly is thought ... |
Molecular genetics OMIM |
- Mutations in the EMX2 Gene Brunelli et al. (1996) found that 3 of 8 patients with severe schizencephaly were heterozygous for different mutations in the EMX2 gene (600035.0001-600035.0003). The patients with EMX2 mutations belonged to ... |
Population genetics OMIM |
Curry et al. (2005) reported a population-based study of schizencephaly involving 4 million births in the state of California from 1985 to 2001. The population prevalence was 1.54 in 100,000. A non-CNS abnormality was present in one-third of ... |