Autosomal recessive frontotemporal pachygyria
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A cerebral malformation characterized by symmetric, bilateral pachygyria with normal head circumference and without polymicrogyria. Clinical manifestations include developmental delay, moderate intellectual disability, normal or slightly decreased muscle tone and deep-tendon reflexes, telecanthus or hypertelorism.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive frontotemporal pachygyria | |
| fr | Pachygyrie frontotemporale autosomique récessive | |
| de | Pachygyrie, frontotemporale, autosomal-rezessive | |
| es | Paquigiria frontotemporal autosómica recesiva | |
| it | Pachigira frontotemporale autosomica recessiva | |
| nl | Autosomaal recessieve frontotemporale pachygyrie | |
| pt | Paquigiria frontotemporal autossómica recessiva | |
| pl | Autosomalna recesywna szerokozakrętowość czołowo-skroniowa | |
| cs | Autozomálně recesivní frontotemporální pachygyrie | |
| uk | Аутосомно-рецесивна лобно-скронева пахігірія | |
| zh | 常染色体隐性额颞部无脑回畸形 | |
| tr | Otozomal resesif frontotemporal pakigiri |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| MONDO | 0012462 | E | validated | |
| MeSH | C538092 | E | validated | |
| UMLS | C1853215 | 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: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 | 7 cases | Worldwide | Case(s) | Validated | 23022981[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
11 annotations · validated 2016-10-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| HP:0001302 | Pachygyria | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0000020 | Urinary incontinence | |
| Frequent (79-30%) | ||
| HP:0000565 | Esotropia | |
| HP:0000316 | Hypertelorism | |
| HP:0001250 | Seizure | |
| HP:0000506 | Telecanthus | |
Run the differential on the 7 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/329329
- This record as JSON: /data/d/329329.json