X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Neonatal
- Status
- active
A rare syndromic genetic deafness characterized by congenital hearing loss, atresia or stenosis of the external auditory canal, dilated internal auditory canal, malformation of the inner ear (incomplete separation of the cochlea basal turn from the fundus of the internal auditory canal), in combination with abnormal auricular shape and facial dysmorphism (including thick eyebrows, ptosis, broad nasal root, and telecanthus). Intelligence is normal and developmental delay is absent.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome | |
| fr | Syndrome lié à l'X d'atrésie du conduit auditif externe-dilatation du canal auditif interne-dysmorphie faciale | |
| de | X-chromosomale äußere Gehörgangatresie-dilatierter innerer Gehörgang-Gesichtsdysmorphie-Syndrom | |
| es | Síndrome de atresia del canal auditivo externo-canal auditivo interno dilatado-dismorfia facial ligado al cromosoma X | |
| it | Sindrome atresia del canale uditivo esterno - dilatazione del canale uditivo interno - dismorfismi facciali legata all'X | |
| nl | X-gebonden atresie van uitwendige gehoorgang - wijde inwendige gehoorgang - faciale dysmorfie-syndroom | |
| pt | Síndrome de atresia do canal auditivo externo-canal auditivo interno dilatado-dismorfia facial ligado ao X | |
| pl | Zespół atrezji zewnętrznego przewodu słuchowego, poszerzonego wewnętrznego przewodu słuchowego oraz dysmorfii twarzy sprzężony z chromosome X | |
| cs | X-vázaný syndrom zahrnující atrézii zevního zvukovodu, dilataci vnitřního zvukovodu a faciální dysmorfismus | |
| uk | Х-зчеплений синдром атрезії зовнішнього слухового проходу-розширеного внутрішнього слухового проходу-дисморфізму обличчя | |
| zh | X连锁外耳道闭锁-扩张型内耳道-面部畸形综合征 | |
| tr | X'e bağlı eksternal işitsel kanal atrezisi ile genişlemiş iç işitsel kanal-fasyal dismorfizm sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 301018 | E | validated | |
| ICD-10 | H91.8 | NTBT | attributed | not yet validated |
| ICD-11 | LD2H.Y | NTBT | attributed | validated |
| MONDO | 0044702 | E | validated | |
| UMLS | C5567226 | 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 (2):
- ORPHA:156243Pinnae and external auditory canal anomaly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:90642Rare syndromic genetic deafness
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 |
|---|---|---|---|---|---|---|---|---|
| GPRASP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:25169 | ENSG00000158301 | 300969 | Xq22.1 | G protein-coupled receptor associated sorting protein 2 | 28096187[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 28096187[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28096187[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/500188
- This record as JSON: /data/d/500188.json