Isolated hereditary congenital facial paralysis
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated hereditary congenital facial paralysis | |
| fr | Paralysie faciale congénitale héréditaire isolée | |
| de | Fazialisparese, hereditäre isolierte kongenitale | |
| es | Parálisis facial congénita hereditaria aislada | |
| it | Paralisi facciale congenita ereditaria isolata | |
| nl | Geïsoleerde erfelijke congenitale facialisparalyse | Geïsoleerde erfelijke congenitale aangezichtsverlamming |
| pt | Paralisia facial isolada hereditária congénita | |
| pl | Izolowany dziedziczny wrodzony paraliż twarzy | |
| cs | Izolovaná dědičná vrozená faciální paralýza | |
| uk | Ізольований спадковий вроджений параліч обличчя | |
| zh | 孤立性遗传性先天性面瘫 | |
| tr | İzole kalıtsal doğumsal yüz paralizi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601471 | E | validated | |
| ICD-10 | Q07.8 | NTBT | attributed | validated |
| MONDO | 0011090 | E | validated | |
| UMLS | C4518577 | E | validated | |
| GARD | 8583 | 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 (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.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 families | Worldwide | Family(ies) | 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/306527
- This record as JSON: /data/d/306527.json