ORPHA:1297
Branchio-oculo-facial syndrome
Synonyms: BOFS
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, dominantly inherited multiple congenital anomalies syndrome characterized by highly variable clinical phenotype involving the three main affected systems: branchial (cutaneous) defects, ophthalmic malformations and facial anomalies. Additional features can be present.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Branchio-oculo-facial syndrome | BOFS |
| fr | Syndrome branchio-oculo-facial | = en |
| de | Branchio-okulo-faziales Syndrom | BOFS · Lee-Root-Fenske-Syndrom |
| es | Síndrome branquio-óculo-facial | Síndrome de Lee-Root-Fenske |
| it | Sindrome branchio-oculo-facciale | = en |
| nl | Branchio-oculo-faciaal syndroom | = en |
| pt | Síndrome branquio-óculo-facial | = en |
| pl | Zespół skrzelowo-oczno-twarzowy | = en |
| cs | Branchiookulofaciální syndrom | = en |
| uk | Бранхіо-окуло-фаціальний синдром | = en |
| zh | 鳃眼面综合征 | = en |
| tr | Branchio-okülo-yüz sendromu | = en |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 113620 | E | validated | |
| ICD-10 | Q18.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0007235 | E | validated | |
| UMLS | C0376524 | E | validated | |
| GARD | 3212 | 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 (3):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological 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 |
|---|---|---|---|---|---|---|---|---|
| TFAP2A | Disease-causing germline mutation(s) in | Assessed | HGNC:11742 | ENSG00000137203 | 107580 | 6p24.3 | transcription factor AP-2 alpha | 21634087[PMID]_18423521[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 150 cases | Worldwide | Case(s) | Validated | 21634087[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21634087[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
37 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0000987 | Atypical scarring of skin | |
| HP:0000589 | Coloboma | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0002002 | Deep philtrum | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0001028 | Hemangioma | |
| HP:0004464 | Postauricular pit | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0004467 | Preauricular pit | |
| HP:0008606 | Supraauricular pit | |
| Frequent (79-30%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000455 | Broad nasal tip | |
| HP:0000268 | Dolichocephaly | |
| HP:0100798 | Fingernail dysplasia | |
| HP:0000218 | High palate | |
| HP:0001611 | Hypernasal speech | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000612 | Iris coloboma | |
| HP:0000691 | Microdontia | |
| HP:0000579 | Nasolacrimal duct obstruction | |
| HP:0100335 | Non-midline cleft of the upper lip | |
| HP:0002216 | Premature graying of hair | |
| HP:0004322 | Short stature | |
| HP:0009804 | Tooth agenesis | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0000518 | Cataract | |
| HP:0000126 | Hydronephrosis | |
| HP:0000482 | Microcornea | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0000202 | Orofacial cleft | |
| HP:0001177 | Preaxial hand polydactyly | |
| HP:0000508 | Ptosis | |
| HP:0000104 | Renal agenesis | |
| HP:0000486 | Strabismus | |
| HP:0100268 | Upper lip pit | |
Run the differential on the 11 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1297
- This record as JSON: /data/d/1297.json