Auriculocondylar syndrome
Synonyms: Question mark ear syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic dysostosis with predominant craniofacial involvement characterized by bilateral external ear malformations, mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, full cheeks, developmental delay, hearing impairment and respiratory distress. Significant intra- and interfamilial phenotypic variation has been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Auriculocondylar syndrome | Question mark ear syndrome |
| fr | Syndrome auriculo-condylaire | Syndrome des oreilles en forme de point d'interrogation |
| de | Aurikulo-kondyläres Syndrom | Fragezeichenohr-Syndrom |
| es | Síndrome aurículo-condilar | Síndrome de la oreja en punto de interrogación · Síndrome de orejas en signo de interrogación |
| it | Sindrome auricolo-condilare | Sindrome delle orecchie a forma di punto interrogativo |
| nl | Auriculocondylair syndroom | "Vraagtekenoor"-syndroom |
| pt | Síndrome Auriculo-condilar | |
| pl | Zespół uszno-kłykciowy | = en |
| cs | Aurikulokondylární syndrom | Syndrom malformace ucha ve tvaru otazníku |
| uk | Аурикулокондилярний синдром | Синдром вуха у вигляді знака питання |
| zh | 耳-髁突综合征 | 问号耳综合征 |
| tr | Aurikulokondiler sendrom | Soru işareti kulak sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602483 | BTNT | validated | |
| OMIM | 612798 | BTNT | validated | |
| OMIM | 614669 | BTNT | validated | |
| OMIM | 615706 | BTNT | validated | |
| ICD-10 | Q75.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.16 | NTBT | index | validated |
| MONDO | 0000107 | E | validated | |
| MeSH | C538270 | E | validated | |
| UMLS | C1865295 | E | validated | |
| GARD | 9798 | 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:139036Branchial arch or oral-acral syndrome
rare developmental anomalies during embryogenesis - ORPHA:183576Genetic branchial arch or oral-acral syndrome
rare genetic diseases - ORPHA:155896Otomandibular dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EDN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3176 | ENSG00000078401 | 131240 | 6p24.1 | endothelin 1 | 24268655[PMID] |
| GNAI3 | Disease-causing germline mutation(s) in | Assessed | HGNC:4387 | ENSG00000065135 | 139370 | 1p13.3 | G protein subunit alpha i3 | 22560091[PMID] |
| PLCB4 | Disease-causing germline mutation(s) in | Assessed | HGNC:9059 | ENSG00000101333 | 600810 | 20p12.3-p12.2 | phospholipase C beta 4 | 22560091[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | 22560091[PMID]_23315542[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
34 annotations · validated 2018-11-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0009902 | Cleft helix | |
| HP:0007628 | Mandibular condyle hypoplasia | |
| Frequent (79-30%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0009895 | Abnormality of the crus of the helix | |
| HP:0010754 | Abnormality of the temporomandibular joint | |
| HP:0008772 | Aplasia/Hypoplasia of the external ear | |
| HP:0000193 | Bifid uvula | |
| HP:0000175 | Cleft palate | |
| HP:0000678 | Dental crowding | |
| HP:0000689 | Dental malocclusion | |
| HP:0000324 | Facial asymmetry | |
| HP:0000293 | Full cheeks | |
| HP:0000162 | Glossoptosis | |
| HP:0000347 | Micrognathia | |
| HP:0000160 | Narrow mouth | |
| HP:0002870 | Obstructive sleep apnea | |
| HP:0100277 | Periauricular skin pits | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000384 | Preauricular skin tag | |
| HP:0030022 | Question mark ear | |
| HP:0002098 | Respiratory distress | |
| HP:0025267 | Snoring | |
| HP:0000183 | Tongue muscle weakness | |
| Occasional (29-5%) | ||
| HP:0011968 | Feeding difficulties | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001263 | Global developmental delay | |
| HP:0011802 | Hamartoma of tongue | |
| HP:0000365 | Hearing impairment | |
| HP:0000256 | Macrocephaly | |
| HP:0007627 | Mandibular condyle aplasia | |
| HP:0000171 | Microglossia | |
| HP:0000508 | Ptosis | |
| Very rare (<4-1%) | ||
| HP:0030713 | Vein of Galen aneurysmal malformation | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 20733479[PMID]_23315542[PMID]_16114046[PMID]_23315542[PMID]_16114046[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/137888
- This record as JSON: /data/d/137888.json