ORPHA:183576
Genetic branchial arch or oral-acral syndrome
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Genetic branchial arch or oral-acral syndrome | |
| fr | Syndrome des archs branchiaux ou syndrome oro-acral d'origine génétique | |
| de | Kiemenbogen- oder oroakrales-Syndrom, genetisch bedingt | |
| es | Síndrome oral-acro o del arco branquial de origen genético | |
| it | Sindrome genetica dell'arco branchiale o oro-acrale | |
| nl | Genetisch kieuwboog- of oraal-acraal-syndroom | |
| pt | Síndrome genético dos arcos branquiais ou orais-acrais | |
| pl | Genetyczny zespół łuku skrzelowego lub zespół ustno-kończynowy | |
| cs | Geneticky podmíněná onemocnění žaberních oblouků nebo orálně-akrální syndromy | |
| uk | Генетичний зяберної дуги або орально-акральний синдром | |
| zh | 遗传性鳃弓或口腔肢端综合征 | |
| tr | Genetik brankial ark veya oral akral sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5680546 | 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 (1):
- ORPHA:183530Rare genetic developmental defect during embryogenesis
rare genetic diseases
Children (31):
- ORPHA:1786Acrofacial dysostosis, Catania type
- ORPHA:64542Acrofacial dysostosis, Kennedy-Teebi type
- ORPHA:1787Acrofacial dysostosis, Palagonia type
- ORPHA:1788Acrofacial dysostosis, Rodríguez type
- ORPHA:952Acrofacial dysostosis, Weyers type
- ORPHA:137888Auriculocondylar syndrome
- ORPHA:107BOR syndrome
- ORPHA:1406Charlie M syndrome
- ORPHA:141132Craniofacial microsomia
- ORPHA:2554Ear-patella-short stature syndrome
- ORPHA:231742Epibulbar lipodermoid-preauricular appendage-polythelia syndrome
- ORPHA:1791Frontofacionasal dysplasia
- ORPHA:306542Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
- ORPHA:2213Hypertelorism-microtia-facial clefting syndrome
- ORPHA:989Hypoglossia-hypodactyly syndrome
- ORPHA:1296Lambert syndrome
- ORPHA:357158Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
- ORPHA:79113Mandibulofacial dysostosis-microcephaly syndrome
- ORPHA:570Moebius syndrome
- ORPHA:245Nager syndrome
- ORPHA:2549Oculoauriculovertebral spectrum with radial defects
- ORPHA:140997Orofaciodigital syndrome
- ORPHA:2792Otofaciocervical syndrome
- ORPHA:90650Otopalatodigital syndrome type 1
- ORPHA:90652Otopalatodigital syndrome type 2
- ORPHA:2439Patterson-Stevenson-Fontaine syndrome
- ORPHA:246Postaxial acrofacial dysostosis
- ORPHA:2063Splenogonadal fusion-limb defects-micrognathia syndrome
- ORPHA:861Treacher-Collins syndrome
- ORPHA:3456Wildervanck syndrome
- ORPHA:1131X-linked mandibulofacial dysostosis
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/183576
- This record as JSON: /data/d/183576.json