ORPHA:3023
External auditory canal atresia-vertical talus-hypertelorism syndrome
Synonyms: Rasmussen-Johnsen-Thomsen syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable, Unknown
- Age of onset
- Neonatal
- Status
- active
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | External auditory canal atresia-vertical talus-hypertelorism syndrome | Rasmussen-Johnsen-Thomsen syndrome |
| fr | Syndrome d'atrésie du canal auditif externe-pied en piolet-hypertélorisme | Syndrome de Rasmussen-Johnsen-Thomsen |
| de | Gehörgangsatresie-vertikaler Talus-Hypertelorismus-Syndrom | Rasmussen-Johnsen-Thomsen-Syndrom |
| es | Síndrome de atresia del conducto auditivo externo-talud vertical-hipertelorismo | |
| it | Sindrome da atresia del canale uditivo esterno - talo verticale - ipertelorismo | |
| nl | Atresie van uitwendige gehoorgang - verticale talus - hypertelorisme-syndroom | Syndroom van Rasmussen-Johnsen-Thomsen |
| pt | Síndrome de atresia do canal auditivo externo-talo vertical-hipertelorismo | Síndrome Rasmussen-Johnsen-Thomsen |
| pl | Zespół atrezji zewnętrznego przewodu słuchowego, stopy płasko-koślawej i hiperteloryzmu | = en |
| cs | Rasmussenové-Johnsenův-Thomsenův syndrom | Rasmussen-Johnsen-Thomsenův syndrom |
| uk | Синдром атрезії зовнішнього слухового проходу-vertical talus-гіпертелоризму | Синдром Расмуссена-Джонсена-Томсена |
| zh | 外耳道闭锁-垂直距骨-器官间距过远综合征 | Rasmussen-Johnsen-Thomsen综合征 |
| tr | Eksternal kulak yolu atrezi-vertikal talus-hipertelorizm sendromu | Rasmussen-Johnsen-Thomsen sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 133705 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0007587 | E | validated | |
| MeSH | C535290 | E | validated | |
| UMLS | C2930867 | E | validated | |
| GARD | 4638 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:404571Dysostosis of genetic origin with limb anomaly as a major feature
rare genetic diseases - ORPHA:364568Dysostosis with limb anomaly as a major feature
rare developmental anomalies during embryogenesis; rare bone diseases - 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:156243Pinnae and external auditory canal anomaly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22152683[PMID]_495079[PMID]_12116258[PMID] |
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 22152683[PMID]_495079[PMID]_12116258[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.
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HPO phenotypes
6 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000413 | Atresia of the external auditory canal | |
| Frequent (79-30%) | ||
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000365 | Hearing impairment | |
| HP:0000316 | Hypertelorism | |
| Occasional (29-5%) | ||
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0000486 | Strabismus | |
Run the differential on the 1 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3023
- This record as JSON: /data/d/3023.json