Unilateral polymicrogyria
- Type
- Morphological anomaly
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Unilateral polymicrogyria | |
| fr | Polymicrogyrie unilatérale | |
| de | Polymikrogyrie, unilaterale | |
| es | Polimicrogiria unilateral | |
| it | Polimicrogiria monolaterale | |
| nl | Unilaterale polymicrogyrie | |
| pt | Polimicrogiria unilateral | |
| pl | Drobnozakrętowość/Polimikrogyria jednostronna | |
| cs | Unilaterální polymikrogyrie | Nonlissencefalická kortikální dysplázie unilaterální |
| uk | Одностороння полімікрогірія | |
| zh | 单侧多小脑回 | |
| tr | Unilateral polimikrogri |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| ICD-11 | LA05.50 | NTBT | index | validated |
| MONDO | 0017092 | E | validated | |
| UMLS | C4024960 | 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 (1):
- ORPHA:35981Polymicrogyria
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
37 annotations · validated 2019-03-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002539 | Cortical dysplasia | |
| HP:0010818 | Generalized tonic seizure | |
| HP:0001269 | Hemiparesis | |
| HP:0001249 | Intellectual disability | |
| HP:0007010 | Poor fine motor coordination | |
| HP:0007024 | Pseudobulbar paralysis | |
| HP:0001250 | Seizure | |
| HP:0002510 | Spastic tetraplegia | |
| Occasional (29-5%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0002533 | Abnormal posturing | |
| HP:0002104 | Apnea | |
| HP:0012389 | Appendicular hypotonia | |
| HP:0008936 | Axial hypotonia | |
| HP:0000961 | Cyanosis | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000421 | Epistaxis | |
| HP:0000565 | Esotropia | |
| HP:0002384 | Focal impaired awareness seizure | |
| HP:0007359 | Focal-onset seizure | |
| HP:0001312 | Giant somatosensory evoked potentials | |
| HP:0008610 | Infantile sensorineural hearing impairment | |
| HP:0012469 | Infantile spasms | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0004305 | Involuntary movements | |
| HP:0001270 | Motor delay | |
| HP:0001336 | Myoclonus | |
| HP:0012650 | Perisylvian polymicrogyria | |
| HP:0002421 | Poor head control | |
| HP:0006548 | Pulmonary arteriovenous malformation | |
| HP:0011344 | Severe global developmental delay | |
| HP:0002133 | Status epilepticus | |
| HP:0001297 | Stroke | |
| HP:0000505 | Visual impairment | |
| Very rare (<4-1%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0001335 | Bimanual synkinesia | |
| HP:0000252 | Microcephaly | |
| HP:0040288 | Nasogastric tube feeding | |
Annotation source: 20198472[PMID_26094545[PMID]_15626537[PMID]_20403963[PMID]_11376999[PMID]_29059488[PMID]_30584075[PMID]_28300030[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/268943
- This record as JSON: /data/d/268943.json