External auditory canal aplasia/hypoplasia
Synonyms: External auditory canal stenosis/atresia
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare, otorhinolaryngological malformation characterized by failure in development of the external ear canal resulting in variable degree of malformations ranging from complete absence to mild stenosis and malformation of the middle ear. It is typically unilateral, it manifests with hearing loss on the affected side, and might be associated with microtia or hypoplastic pinna, an aberrant facial nerve course, and cholesteatoma.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | External auditory canal aplasia/hypoplasia | External auditory canal stenosis/atresia |
| fr | Aplasie/hypoplasie du conduit auditif externe | Sténose/atrésie du conduit auditif externe |
| de | Aplasie/Hypoplasie des äußeren Gehörgangs | |
| es | Aplasia/ hipoplasia del canal auditivo externo | Estenosis/atresia del conducto auditivo externo |
| it | Aplasia/ipoplasia del canale uditivo esterno | |
| nl | Aplasie/hypoplasie van uitwendige gehoorgang | Stenose/atresie van uitwendige gehoorgang |
| pt | Aplasia do canal auditivo externo | |
| pl | Aplazja/hipoplazja zewnętrznego kanału słuchowego | Zwężenie/atrezja zewnętrznego kanału słuchowego |
| cs | Aplázie/hypoplázie zevního zvukovodu | Stenóza/atrézie zevního zvukovodu |
| uk | Аплазія/гіпоплазія зовнішнього слухового проходу | Стеноз/атрезія зовнішнього слухового проходу |
| zh | 先天性外耳道发育不良 | 外耳道狭窄/闭锁 |
| tr | Dış işitsel kanal aplazisi / hipoplazi | Eksternal işitsel kanal darlığı/atrezi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 108760 | BTNT | validated | |
| OMIM | 607842 | BTNT | validated | |
| ICD-10 | Q16.1 | E | specific | validated |
| ICD-11 | LA22.2 | E | specific | validated |
| MONDO | 0015385 | E | validated | |
| UMLS | C0266597 | 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:156243Pinnae and external auditory canal anomaly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TSHZ1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10669 | ENSG00000179981 | 614427 | 18q22.3 | teashirt zinc finger homeobox 1 | 22152683[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/141074
- This record as JSON: /data/d/141074.json