Schizencephaly

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 9
OrphanetNr: 799
OMIM Id: 269160
ICD-10: Q04.6
UMLs:
MeSH:
MedDRA:
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: Sort by abundance 

1
(HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
2
(HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
3
(HPO:0002353) EEG abnormality Very frequent [Orphanet] 188 / 7739
4
(HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
5
(HPO:0004374) Hemiplegia/hemiparesis Frequent [Orphanet] 158 / 7739
6
(HPO:0002132) Porencephaly Very frequent [Orphanet] 18 / 7739
7
(HPO:0010636) Schizencephaly 5 / 7739
8
(HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
9
(HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Very frequent [Orphanet] 180 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

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 ...