Unilateral focal polymicrogyria
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Unilateral focal polymicrogyria (BFPP) is the mildest sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Unilateral focal polymicrogyria | |
| fr | Polymicrogyrie unilatérale focale | |
| de | Polymikrogyrie, fokale unilaterale | |
| es | Polimicrogiria unilateral focal | |
| it | Polimicrogiria focale monolaterale | |
| nl | Unilaterale focale polymicrogyrie | |
| pt | Polimicrogiria focal unilateral | |
| pl | Drobnozakrętowość/Polimikrogyria jednostronna ogniskowa | |
| cs | Unilaterální fokální polymikrogyrie | |
| uk | Одностороння фокальна полімікрогірія | |
| zh | 单侧局灶性多小脑回 | |
| tr | Unilateral fokal 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 | 0017093 | E | validated | |
| UMLS | C5680773 | 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:268943Unilateral polymicrogyria
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
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
29 annotations · validated 2020-10-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100308 | Cerebral cortical hemiatrophy | |
| HP:0002539 | Cortical dysplasia | |
| HP:0011153 | Focal motor seizure | |
| HP:0001263 | Global developmental delay | |
| HP:0001269 | Hemiparesis | |
| HP:0001249 | Intellectual disability | |
| HP:0001250 | Seizure | |
| HP:0011099 | Spastic hemiparesis | |
| Frequent (79-30%) | ||
| HP:0007377 | Abnormality of somatosensory evoked potentials | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0007334 | Bilateral tonic-clonic seizure with focal onset | |
| HP:0012015 | EEG with frontal focal spikes | |
| HP:0012018 | EEG with temporal focal spikes | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0001268 | Mental deterioration | |
| Occasional (29-5%) | ||
| HP:0000718 | Aggressive behavior | |
| HP:0001335 | Bimanual synkinesia | |
| HP:0012014 | EEG with central focal spikes | |
| HP:0012016 | EEG with occipital focal spikes | |
| HP:0012017 | EEG with parietal focal spikes | |
| HP:0002384 | Focal impaired awareness seizure | |
| HP:0000758 | Impaired use of nonverbal behaviors | |
| HP:0007229 | Intracerebral periventricular calcifications | |
| HP:0002463 | Language impairment | |
| HP:0002354 | Memory impairment | |
| HP:0007010 | Poor fine motor coordination | |
| HP:0011171 | Simple febrile seizure | |
| HP:0000020 | Urinary incontinence | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 15626537[PMID]_24184770[PMID]_17307715[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/268947
- This record as JSON: /data/d/268947.json