Otofaciocervical syndrome
Synonyms: Fara-Chlupackova syndrome · OFC syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Otofaciocervical syndrome | Fara-Chlupackova syndrome · OFC syndrome |
| fr | Syndrome oto-facio-cervical | Syndrome OFC · Syndrome de Fara-Chlupackova |
| de | Oto-fazio-zervikales Syndrom | Fara-Chlupácková-Syndrom · OFC-Syndrom |
| es | Síndrome oto-facio-cervical | Síndrome OFC · Síndrome de Fara-Chlupackova |
| it | Sindrome oto-facio-cervicale | Sindrome OFC · Sindrome di Fara-Chlupackova |
| nl | Otofaciocervicaal syndroom | OFC-syndroom · Syndroom van Fara-Chlupackova |
| pt | Síndrome oto-facio-cervical | Síndrome Fara-Chlupackova |
| pl | Zespół uszno-twarzowo-szyjny | Zespół Fara i Chlupackova · Zespół OFC |
| cs | Otofaciocervikální syndrom | OFC syndrom · Farův-Chlupáčkové syndrom · Fara-Chlupáčkové syndrom |
| uk | Отофаціоцервікальний синдром | Синдром Фара-Хлупакова · Синдром OFC |
| zh | 耳面颈综合征 | Fara-Chlupackova综合征 |
| tr | Otofasiyoservikal sendrom | OFC sendromu · Fara-Chlupackova sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 166780 | BTNT | validated | |
| OMIM | 615560 | BTNT | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0008163 | E | validated | |
| MeSH | C563481 | E | validated | |
| UMLS | C1833691 | E | validated | |
| GARD | 4169 | 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 (4):
- ORPHA:139036Branchial arch or oral-acral syndrome
rare developmental anomalies during embryogenesis - ORPHA:183576Genetic branchial arch or oral-acral syndrome
rare genetic diseases - 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
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| EYA1 | ORPHA:720341Otofaciocervical syndrome without thymic hypoplasia | Disease-causing germline mutation(s) in | Assessed | HGNC:3519 | ENSG00000104313 | 601653 | 8q13.3 | EYA transcriptional coactivator and phosphatase 1 | 16441263[PMID] |
| PAX1 | ORPHA:720357Otofaciocervical syndrome with thymic hypoplasia | Disease-causing germline mutation(s) in | Assessed | HGNC:8615 | ENSG00000125813 | 167411 | 20p11.22 | paired box 1 | 23851939[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 18 cases | Worldwide | Case(s) | Validated | 8558563[PMID]_11409867[PMID]_16441263[PMID]_31379922[PMID]_28657137[PMID]_29681087[PMID]_23851939[PMID]_ 37689091[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 8558563[PMID]_11409867[PMID]_16441263[PMID]_31379922[PMID]_28657137[PMID]_29681087[PMID]_23851939[PMID]_ 37689091[PMID]_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
23 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000889 | Abnormality of the clavicle | |
| HP:0000463 | Anteverted nares | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0200021 | Down-sloping shoulders | |
| HP:0000293 | Full cheeks | |
| HP:0001263 | Global developmental delay | |
| HP:0000218 | High palate | |
| HP:0001347 | Hyperreflexia | |
| HP:0001276 | Hypertonia | |
| HP:0001249 | Intellectual disability | |
| HP:0000400 | Macrotia | |
| HP:0004467 | Preauricular pit | |
| HP:0000411 | Protruding ear | |
| HP:0003691 | Scapular winging | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0009738 | Abnormality of the antihelix | |
| HP:0002750 | Delayed skeletal maturation | |
| Occasional (29-5%) | ||
| HP:0000413 | Atresia of the external auditory canal | |
| HP:0000324 | Facial asymmetry | |
| HP:0008678 | Renal hypoplasia/aplasia | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2792
- This record as JSON: /data/d/2792.json