Branchiootic syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Branchiootic syndrome | |
| fr | Syndrome branchio-otique | |
| de | Branchiootisches Syndrom | |
| es | Síndrome branquio-ótico | |
| it | Sindrome brachio - auricolare | |
| nl | Branchio-otisch syndroom | |
| pt | Síndrome branquio-ótico | |
| pl | Zespół skrzelowo-uszny | |
| cs | Branchiootický syndrom | |
| uk | Бранхіоотичний синдром | |
| zh | 鳃耳综合征 | |
| tr | Brankiootik sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 120502 | BTNT | validated | |
| OMIM | 602588 | E | validated | |
| OMIM | 608389 | BTNT | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0018878 | E | validated | |
| MeSH | C537104 | E | validated | |
| UMLS | C4273131 | E | validated | |
| GARD | 10148 | 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 (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:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EYA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3519 | ENSG00000104313 | 601653 | 8q13.3 | EYA transcriptional coactivator and phosphatase 1 | 9359046[PMID]_23840632[PMID] |
| SIX1 | Disease-causing germline mutation(s) in | Assessed | HGNC:10887 | ENSG00000126778 | 601205 | 14q23.1 | SIX homeobox 1 | 15141091[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2.5 / 100 000 | Worldwide | Value and class | 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
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000365 | Hearing impairment | |
| HP:0004467 | Preauricular pit | |
| Frequent (79-30%) | ||
| HP:0000359 | Abnormality of the inner ear | |
| HP:0000356 | Abnormality of the outer ear | |
| HP:0000413 | Atresia of the external auditory canal | |
| HP:0009795 | Branchial fistula | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0008609 | Morphological abnormality of the middle ear | |
| HP:0000407 | Sensorineural hearing impairment | |
| Occasional (29-5%) | ||
| HP:0000614 | Abnormal nasolacrimal system morphology | |
| HP:0000175 | Cleft palate | |
| HP:0000324 | Facial asymmetry | |
| HP:0010628 | Facial palsy | |
| HP:0100267 | Lip pit | |
| HP:0000347 | Micrognathia | |
| HP:0000384 | Preauricular skin tag | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 24698626[PMID]_23840632[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/52429
- This record as JSON: /data/d/52429.json