Pachygyria-intellectual disability-epilepsy syndrome
Synonyms: Kuzniecky syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Childhood
- Status
- active
A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pachygyria-intellectual disability-epilepsy syndrome | Kuzniecky syndrome |
| fr | Syndrome de pachygyrie-déficience intellectuelle-épilepsie | Syndrome de Kuzniecky |
| de | Pachygyrie-Intelligenzminderung-Epilepsie-Syndrom | Kuzniecky-Syndrom |
| es | Síndrome de paquigiria-discapacidad intelectual-epilepsia | Síndrome de Kuzniecky |
| it | Sindrome pachigiria-disabilità intellettiva-epilessia | Sindrome di Kuzniecky |
| nl | Pachygyrie - intellectuele achterstand - epilepsie-syndroom | Syndroom van Kuzniecky |
| pt | Síndrome de paquigiria-perturbação do desenvolvimento intelectual-epilepsia | Síndrome Kuzniecky |
| pl | Szerokozakrętowość - niepełnosprawność intelektualna - padaczka | Zespół Kuzniecky'ego |
| cs | Syndrom zahrnující pachygyrii, mentální retardaci a epilepsii | Kuznieckého syndrom |
| uk | Синдром пахігірії - інтелектуальної недостатності - епілепсії | Синдром Кузнецького |
| zh | 巨脑回畸形-智力障碍-癫痫综合征 | Kuzniecky综合征 |
| tr | Pakigri-zihinsel yetersizlik-epilepsi sendromu | Kuzniecky sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600176 | E | validated | |
| ICD-10 | G40.4 | NTBT | attributed | validated |
| MONDO | 0010840 | E | validated | |
| MeSH | C538091 | E | validated | |
| UMLS | C1838491 | E | validated | |
| GARD | 409 | 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:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:163209Non-syndromic cerebral malformation due to abnormal neuronal migration
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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 17343267[PMID]_8129645[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17343267[PMID]_8129645[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
4 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0001622 | Premature birth | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2798
- This record as JSON: /data/d/2798.json