Glossopalatine ankylosis
Synonyms: Cosack syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare oromandibular-limb hypogenesis syndrome (OLHS) characterised by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge. It may be associated with other abnormalities such as cleft palate (in which case the tongue may be attached to the nasal septum), mandibular hypoplasia, upper-lip hypoplasia, hypodontia and variable limb anomalies (e.g. oligodactyly, syndactyly and polydactyly).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Glossopalatine ankylosis | Cosack syndrome |
| fr | Ankylose glossopalatine | Syndrome de Cosack |
| de | Ankylose, glossopalatine | |
| es | Anquilosis glosopalatina | Síndrome de Cosack |
| it | Anchilosi glossopalatina | |
| nl | Glossopalatinale ankylose | Syndroom van Cosack |
| pt | Anquilose glossopalatina | |
| pl | Ankyloza językowo-podniebienna | Zespół Cosacka |
| cs | Glosopalatální ankylóza | Cosackův syndrom |
| uk | Глотково-піднебінний анкілоз | Козацький синдром |
| zh | 舌腭关节强直 | Cosack综合征 |
| tr | Glossopalatin ankiloz | Cosack sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q38.3 | NTBT | attributed | validated |
| ICD-11 | LD25.0Y | NTBT | index | validated |
| MONDO | 0015399 | E | validated | |
| UMLS | C4303569 | E | validated | |
| GARD | 19954 | 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:2749Oromandibular-limb hypogenesis syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases; rare surgical maxillo-facial diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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/141163
- This record as JSON: /data/d/141163.json