ORPHA:306530
Congenital hereditary facial paralysis-variable hearing loss syndrome
Synonyms: Congenital hereditary facial palsy with variable deafness · Congenital hereditary facial palsy with variable hearing loss · Congenital hereditary facial paralysis with variable deafness · Congenital hereditary facial paralysis-variable deafness syndrome
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital hereditary facial paralysis-variable hearing loss syndrome | Congenital hereditary facial palsy with variable deafness · Congenital hereditary facial palsy with variable hearing loss · Congenital hereditary facial paralysis with variable deafness · Congenital hereditary facial paralysis-variable deafness syndrome |
| fr | Syndrome de paralysie faciale congénitale héréditaire-surdité variable | |
| de | Kongenitale hereditäre Fazialisparese mit variablem Hörverlust | Gesichtslähmung, angeborene, mit variabler Schwerhörigkeit · Kongenitale hereditäre Fazialisparese-variable Schwerhörigkeit-Syndrom |
| es | Síndrome de parálisis facial hereditaria congénita-hipoacusia variable | Parálisis facial hereditaria congénita con hipoacusia variable · Parálisis facial hereditaria congénita con sordera variable · Síndrome de parálisis facial hereditaria congénita-sordera variable |
| it | Paralisi facciale ereditaria congenita con perdita di udito variabile | Paralisi facciale ereditaria congenita con sordità variabile |
| nl | Congenitale erfelijke facialisparalyse - variabel gehoorverlies-syndroom | Congenitale erfelijke aangezichtsverlamming - variabel gehoorverlies-syndroom · Congenitale erfelijke aangezichtsverlamming - variabele doofheid-syndroom · Congenitale erfelijke faciale paralyse met variabel gehoorverlies · Congenitale erfelijke faciale paralyse met variabele doofheid · Congenitale erfelijke facialisparalyse - variabele doofheid-syndroom · Congenitale hereditaire aangezichtsverlamming met variabel gehoorverlies · Congenitale hereditaire aangezichtsverlamming met variabele doofheid |
| pt | Síndrome de paralisia facial congénita hereditária-perda auditiva variável | |
| pl | Wrodzony dziedziczny paraliż twarzy z utratą słuchu różnego stopnia | Wrodzone dziedziczne porażenie twarzy z głuchotą różnego stopnia · Wrodzone dziedziczne porażenie twarzy z utratą słuchu różnego stopnia · Wrodzony dziedziczny paraliż twarzy z głuchotą różnego stopnia |
| cs | Vrozená dědičná faciální paralýza s variabilní ztrátou sluchu | Vrozená dědičná faciální obrna s variabilní hluchotou · Vrozená dědičná faciální obrna s variabilní ztrátou sluchu · Vrozená dědičná faciální paralýza s variabilní hluchotou |
| uk | Синдром вродженого спадкового паралічу обличчя-варіабельної приглухуватості | Вроджений спадковий параліч обличчя зі змінною глухотою · Вроджений спадковий параліч обличчя зі змінною втратою слуху · Вроджений спадковий параліч лицьового нерва зі змінною глухотою · Вроджений спадковий параліч обличчя - синдром варіабельної глухоти |
| zh | 先天性遗传性面瘫伴可变听力损失综合征 | 先天性遗传性面瘫伴可变听力损失 |
| tr | Doğumsal kalıtsal yüz paralizi-değişken işitme kaybı sendromu | Değişken sağırlık ile seyreden doğumsal kalıtsal fasiyal felç · Değişken işitme kaybı ile seyreden doğumsal kalıtsal fasiyal felç · Değişken sağırlık ile seyreden doğumsal kalıtsal fasiyal paraliz · Doğumsal kalıtsal fasiyal paraliz-değişken sağırlık sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604185 | BTNT | validated | |
| OMIM | 614744 | BTNT | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0017627 | E | validated | |
| UMLS | C4302592 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:98518Congenital cranial dysinnervation disorder
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:156224Paralytic facial malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare surgical maxillo-facial diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HOXB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:5111 | ENSG00000120094 | 142968 | 17q21.32 | homeobox B1 | 22770981[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 3775291[PMID]_22770981[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3775291[PMID]_22770981[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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/306530
- This record as JSON: /data/d/306530.json