Second branchial cleft anomaly
Synonyms: Second branchial cleft cyst · Second branchial cleft fistula
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
A rare otorhinolaryngological malformation characterized by the presence of a cyst, sinus or fistula occuring along the anterior border of the sternocleidomastoid muscle. Second branchial cleft fistulae and sinuses present with skin opening with chronic discharge and recurrent infections, whereas second branchial cleft cysts present as a painless, nontender, stable in size or slowly enlarging lateral neck masses. Cysts occasionally acutely increase in size during upper respiratory tract infection, leading to respiratory compromise, torticollis, and dysphagia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Second branchial cleft anomaly | Second branchial cleft cyst · Second branchial cleft fistula |
| fr | Anomalie de la deuxième fente branchiale | Anomalie de la seconde fente branchiale · Fistule de la deuxième fente branchiale · Fistule de la seconde fente branchiale · Kyste de la deuxième fente branchiale · Kyste de la seconde fente branchiale |
| de | Kiemenbogen, 2., Anomalie des | |
| es | Anomalía de la segunda hendidura branquial | Fístula de la segunda hendidura branquial · Quiste de la segunda hendidura branquial |
| it | Schisi del secondo arco branchiale | |
| nl | Anomalie van tweede kieuwspleet | Cyste van tweede kieuwspleet · Fistel van tweede kieuwspleet |
| pt | Anomalia da segunda fenda branquial | |
| pl | Anomalia drugiego łuku skrzelowego | Przetoka drugiego łuku skrzelowego · Torbiel drugiego łuku skrzelowego |
| cs | Anomálie druhé branchiální štěrbiny | Cysta druhé branchiální štěrbiny · Píštěl druhé branchiální štěrbiny |
| uk | Аномалія другої зябрової щілини | Друга гілкова щілинна кіста · Друга гілкова нориця |
| zh | 第二鳃裂畸形 | 第二鳃裂瘘管 |
| tr | İkinci brankial yarık anomalisi | İkinci branşiyal yarık kisti · İkinci branşiyal yarık fistülü |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 113600 | E | validated | |
| ICD-10 | Q18.0 | NTBT | attributed | validated |
| MONDO | 0007233 | E | validated | |
| UMLS | C3874315 | 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:155835Cysts and fistulae of the face and oral cavity
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
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/141022
- This record as JSON: /data/d/141022.json