Branchiogenic deafness syndrome
Synonyms: Branchiogenic hearing loss syndrome · Mégarbané-Loiselet syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and urethral abnormalities are absent.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Branchiogenic deafness syndrome | Branchiogenic hearing loss syndrome · Mégarbané-Loiselet syndrome |
| fr | Surdité branchiogénique | Syndrome de Mégarbané-Loiselet |
| de | Branchiogene Schwerhörigkeit-Syndrom | Mégarbané-Loiselet-Syndrom |
| es | Síndrome de sordera branquiogénica | Síndrome de Mégarbané-Loiselet · Síndrome de hipoacusia branquiogénica |
| it | Sindrome da sordità branchiogena | Sindrome di Mégarbané-Loiselet |
| nl | Branchiogene doofheid-syndroom | Branchiogeen gehoorverlies-syndroom · Syndroom van Mégarbané-Loiselet |
| pt | Síndrome surdez branquiogénica | Síndrome Megarbane-Loiselet |
| pl | Zespół głuchoty skrzelopochodnej | Zespół Mégarbané i Loiselet |
| cs | Syndrom branchiogenní hluchoty | Mégarbanéův-Loiseletův syndrom · Mégarbané-Loiseletův syndrom |
| uk | Синдром бранхіогенної глухоти | Синдром бранхіогенної приглухуватості · Синдром Мегарбане-Луазеле |
| zh | 鳃源性耳聋综合征 | 鳃源性听力丧失综合症 |
| tr | Branchiogenic sağırlık sendromu | Mégarbané-Loiselet sendromu · Branchiogenic işitme kaybı sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609166 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0012209 | E | validated | |
| MeSH | C563780 | E | validated | |
| UMLS | C1836673 | 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 (5):
- 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 - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic 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 | 5 cases | Worldwide | Case(s) | Validated | 12833414[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_12833414[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
21 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0004452 | Abnormality of the middle ear ossicles | |
| HP:0008774 | Aplasia/Hypoplasia of the inner ear | |
| HP:0000483 | Astigmatism | |
| HP:0000413 | Atresia of the external auditory canal | |
| HP:0009796 | Branchial cyst | |
| HP:0009795 | Branchial fistula | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0000410 | Mixed hearing impairment | |
| HP:0009839 | Osteolytic defects of the distal phalanges of the hand | |
| HP:0000396 | Overfolded helix | |
| HP:0004467 | Preauricular pit | |
| HP:0000384 | Preauricular skin tag | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0004322 | Short stature | |
| HP:0000486 | Strabismus | |
| HP:0011272 | Underdeveloped tragus | |
| Frequent (79-30%) | ||
| HP:0000175 | Cleft palate | |
| HP:0007427 | Reticulated skin pigmentation | |
| HP:0001328 | Specific learning disability | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 12833414[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/50815
- This record as JSON: /data/d/50815.json