Schizencephaly
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare developmental defect during embryogenesis characterized by the presence of linear clefts containing cerebrospinal fluid lined by abnormal grey matter that extend from the lateral ventricles to the pial surface of the cortex. Schizencephaly can involve one or both cerebral hemispheres and may lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Schizencephaly | |
| fr | Schizencéphalie | |
| de | Schizenzephalie | |
| es | Esquizencefalia | |
| it | Schizencefalia | |
| nl | Schizencefalie | |
| pt | Esquizencefalia | |
| pl | Schizencefalia | |
| cs | Schizencefalie | |
| uk | Шизенцефалія | |
| zh | 脑裂性孔洞脑 | |
| tr | şizensefali |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 269160 | E | validated | |
| ICD-10 | Q04.6 | NTBT | inclusion | validated |
| ICD-11 | LA05.61 | E | specific | validated |
| MONDO | 0010011 | E | validated | |
| MeSH | D065707 | E | validated | |
| UMLS | C0266484 | E | validated | |
| GARD | 166 | E | validated | |
| MedDRA | 10073487 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:166478Cerebral malformation with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:269190Encephaloclastic disorder
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders
Genes
0 direct · 4 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| COL4A1 | ORPHA:481986Familial schizencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:2202 | ENSG00000187498 | 120130 | 13q34 | collagen type IV alpha 1 chain | 23225343[PMID]_25500781[PMID]_26576802[PMID] |
| EMX2 | ORPHA:485275Acquired schizencephaly | Major susceptibility factor in | Assessed | HGNC:3341 | ENSG00000170370 | 600035 | 10q26.11 | empty spiracles homeobox 2 | 8528262[PMID]_9153481[PMID]_9359037[PMID]_17506092[PMID]_17506092[PMID] |
| SHH | ORPHA:485275Acquired schizencephaly | Major susceptibility factor in | Assessed | HGNC:10848 | ENSG00000164690 | 600725 | 7q36.3 | sonic hedgehog signaling molecule | 19533790[PMID]_20157829[PMID] |
| SIX3 | ORPHA:485275Acquired schizencephaly | Major susceptibility factor in | Assessed | HGNC:10889 | ENSG00000138083 | 603714 | 2p21 | SIX homeobox 3 | 20157829[PMID] |
Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.48 / 100 000 | United Kingdom | Value and class | Validated | 21647999[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.54 / 100 000 | United States | Value and class | Validated | 16059942[PMID] |
| Point prevalence | Unknown | — | Europe | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 1 / 100 000 | Japan | Value and class | Validated | 26545857[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0002353 | EEG abnormality | |
| HP:0002132 | Porencephaly | |
| HP:0001257 | Spasticity | |
| HP:0000486 | Strabismus | |
| Frequent (79-30%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0001269 | Hemiparesis | |
| HP:0001249 | Intellectual disability | |
| HP:0001250 | Seizure | |
| HP:0002510 | Spastic tetraplegia | |
Run the differential on the 5 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/799
- This record as JSON: /data/d/799.json