Isolated congenital syngnathia
Synonyms: Isolated congenital maxillomandibular fusion
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
Isolated congenital syngnathia is a very rare developmental defect during embryogenesis disorder characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thrive, malnutrition and/or temporomandibular joint ankylosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated congenital syngnathia | Isolated congenital maxillomandibular fusion |
| fr | Syngnathie congénitale isolée | Fusion maxillo-mandibulaire congénitale isolée |
| de | Syngnathie, isolierte kongenitale | Maxillomandibuläre Fusion, isolierte kongenitale |
| es | Signatia congénita aislada | Fusión maxilomandibular congénita aislada |
| it | Signazia congenita isolata | |
| nl | Geïsoleerde congenitale syngnathie | Geïsoleerde congenitale maxillomandibulaire fusie |
| pt | Singnatia congénita | |
| pl | Wrodzony zrost szczęki i żuchwy | Wrodzony zrost szczękowo-żuchwowy |
| cs | Vrozená syngnatie | Vrozená maxilomandibulární fúze |
| uk | Ізольована вроджена сингнатія | Ізольоване вроджене щелепно-лицьове зрощення |
| zh | 孤立性先天连颌畸形 | 孤立性先天性上颌骨融合 |
| tr | İzole Doğumsal singnati | İzole doğumsal maksillomandibular füzyon |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q67.4 | NTBT | attributed | validated |
| ICD-11 | LA5Y | NTBT | index | validated |
| MONDO | 0015409 | E | validated | |
| UMLS | C4706392 | E | validated | |
| GARD | 19962 | 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:156237Syndrome or malformation associated with head and neck malformations
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial 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/141214
- This record as JSON: /data/d/141214.json