Oculoauriculofrontonasal syndrome
Synonyms: OAFNS
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Neonatal
- Status
- active
A rare dysostosis syndrome characterized by vertical, median craniofacial clefting of fronto-naso-maxillary structures associated with auriculo-mandibular malformations, manifesting with highly variable craniofacial features which include hypertelorism, eyelid colobomas, orbital dystopia, epibulbar dermoids, nasal anomalies (e.g. wide nasal bridge, bifid nose, widely separated, slit-like nares, nasal bone dysplasia), auricular and middle ear dysplasia (microtia, aural stenosis, pre-auricular skin tags/pits), cleft lip/palate, mandibular/maxillary hypoplasia and facial asymmetry. Intracranial abnormalities and extra-craniofacial features are frequently associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oculoauriculofrontonasal syndrome | OAFNS |
| fr | Syndrome oculo-auriculo-fronto-nasal | = en |
| de | Okulo-aurikulo-fronto-nasales Syndrom | = en |
| es | Síndrome óculo-aurículo-fronto-nasal | = en |
| it | Sindrome oculo-auricolo-fronto-nasale | = en |
| nl | Oculo-auriculo-fronto-nasaal syndroom | = en |
| pt | Síndrome oculoauriculofrontonasal | |
| pl | Zespół oczno-uszno-czołowo-nosowy | = en |
| cs | Okuloaurikulofrontonazální syndrom | = en |
| uk | Окулоаурикулофронтоназальний синдром | = en |
| zh | 眼耳前额肌综合征 | = en |
| tr | Oküloaurikülofrontonasal sendrom | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601452 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0011082 | E | validated | |
| MeSH | C537865 | E | validated | |
| UMLS | C1832352 | E | validated | |
| GARD | 4031 | 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:250Frontonasal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone 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 | 41 cases | Worldwide | Case(s) | Validated | 23637006[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23637006[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.
HPO phenotypes
22 annotations · validated 2018-08-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000456 | Bifid nasal tip | |
| HP:0000316 | Hypertelorism | |
| Frequent (79-30%) | ||
| HP:0000289 | Broad philtrum | |
| HP:0410030 | Cleft lip | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0002084 | Encephalocele | |
| HP:0000324 | Facial asymmetry | |
| HP:0001140 | Limbal dermoid | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0008551 | Microtia | |
| HP:0000160 | Narrow mouth | |
| HP:0006931 | Pericallosal lipoma | |
| HP:0000384 | Preauricular skin tag | |
| HP:0002650 | Scoliosis | |
| HP:0010609 | Skin tags | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0000636 | Upper eyelid coloboma | |
| HP:0001629 | Ventricular septal defect | |
| HP:0000445 | Wide nose | |
| Occasional (29-5%) | ||
| HP:0000175 | Cleft palate | |
| HP:0000256 | Macrocephaly | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 18388775[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/398156
- This record as JSON: /data/d/398156.json