Foix-Chavany-Marie syndrome
Synonyms: Bilateral anterior opercular syndrome · Facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation · Facio-pharyngo-glosso-masticatory diplegia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
A rare cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Foix-Chavany-Marie syndrome | Bilateral anterior opercular syndrome · Facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation · Facio-pharyngo-glosso-masticatory diplegia |
| fr | Syndrome de Foix-Chavany-Marie | Diplégie facio-linguo-masticatrice · Syndrome operculaire antérieur bilatéral |
| de | Foix-Chavany-Marie-Syndrom | Diplegie, fazio-pharyngo-glosso-mastikatorische · Fazio-pharyngo-linguale Diplegie mit willkürlich-automatischer Dissoziation · Operkulumsyndrom, anteriores bilaterales |
| es | Síndrome de Foix-Chavany-Marie | Diplejía facio-faringo-glosa con disociación de movimientos automáticos voluntarios · Diplejía facio-faringo-gloso-masticatoria · Síndrome opercular anterior bilateral |
| it | Sindrome di Foix-Chavany-Marie | Diplegia facio-faringo-glosso-masticatoria · Sindrome opercolare anteriore bilaterale |
| nl | Syndroom van Foix-Chavany-Marie | Bilateraal anterieur operculair syndroom · Facio-faryngo-glossale diplegie met automatisch-vrijwillige bewegingsdissociatie · Facio-faryngo-glosso-masticatoire diplegie |
| pt | Síndrome Foix-Chavany-Marie | |
| pl | Zespół Foixa, Chavany i Mariego | Porażenie poprzeczne twarzowo-gardłowo-językowo-żuciowe · Zespół obustronnego fałdu kory mózgowej (wieczka) |
| cs | Foixův-Charvanyho-Marieův syndrom | Faciofaryngoglosomastikatorní diplegie · Oboustranný přední operkulární syndrom · Foix-Charvany-Marieův syndrom |
| uk | Синдром Фуа-Шавані-Марі | Двосторонній передній оперкулярний синдром · Лицьово-глотково-фаринго-глоткова диплегія з автоматично-довільною руховою дисоціацією · Фаціо-фаринго-глотково-ковтальна диплегія |
| zh | Foix-Chavany-Marie综合征 | 面-咽-舌双侧随意运动障碍伴自发性-随意性运动分离 |
| tr | Foix-Chavany-Marie sendromu | Bilateral anterior operküler sendrom · Fasiyo-faringo-glosso-mastikatuar dipleji · Otomatik istemli hareket ayrışma ile seyreden fasiyo-faringo-glosso dipleji |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G12.2 | NTBT | attributed | validated |
| MONDO | 0023171 | E | validated | |
| MeSH | C537069 | E | validated | |
| UMLS | C2931412 | E | validated | |
| GARD | 2351 | E | validated | |
| MedDRA | 10083275 | 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:182086Acquired peripheral neuropathy
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 | 150 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001172 | Abnormal thumb morphology | |
| HP:0001608 | Abnormality of the voice | |
| HP:0001344 | Absent speech | |
| HP:0100543 | Cognitive impairment | |
| HP:0001288 | Gait disturbance | |
| HP:0001263 | Global developmental delay | |
| HP:0009800 | Maternal diabetes | |
| HP:0001250 | Seizure | |
Run the differential on the 8 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2048
- This record as JSON: /data/d/2048.json