Submucosal cleft palate
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
A rare form of cleft palate characterized by congenital muscular diastasis of the soft palate along the midline with an intact oral and nasal mucosal lining. It is diagnosed by the triad of a bifid uvula, a translucent zone in the soft palate, and a bony notch in the posterior edge of the hard palate, all of which may vary in severity. Velopharyngeal insufficiency in the absence of this triad is classified as occult submucosal cleft palate. Patients may be asymptomatic or present with early feeding problems with fluid reflux through the nose, speech problems, recurrent otitis media with effusions, and hearing loss.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Submucosal cleft palate | |
| fr | Fente palatine submuqueuse | |
| de | Gaumenspalte, submuköse | |
| es | Paladar hendido submucoso | |
| it | Palatoschisi sottomucosale | |
| nl | Submucosaal gespleten verhemelte | |
| pt | Fenda palatina submucosa | |
| pl | Podśluzówkowy rozszczep podniebienia | |
| cs | Submukózní rozštěp patra | |
| uk | Підслизова розщілина піднебіння | |
| zh | 粘膜下腭裂 | |
| tr | Submukozal yarık damak |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q35.9 | NTBT | attributed | validated |
| ICD-11 | LA4Y | NTBT | index | validated |
| MONDO | 0015479 | E | validated | |
| UMLS | C4551487 | 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:2014Cleft palate
rare developmental anomalies during embryogenesis; rare surgical maxillo-facial diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| UBB | Candidate gene tested in | Not yet assessed | HGNC:12463 | ENSG00000170315 | 191339 | 17p11.2 | ubiquitin B | 17468296[PMID] |
| GRHL3 | Major susceptibility factor in | Assessed | HGNC:25839 | ENSG00000158055 | 608317 | 1p36.11 | grainyhead like transcription factor 3 | 27018472[PMID]_27018475[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
6 annotations · validated 2024-07-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000193 | Bifid uvula | |
| HP:0001611 | Hypernasal speech | |
| HP:0011469 | Nasal regurgitation | |
| HP:5201016 | Submucous cleft palate | |
| Occasional (29-5%) | ||
| HP:0000365 | Hearing impairment | |
| HP:0000403 | Recurrent otitis media | |
Annotation source: 32459926[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/155878
- This record as JSON: /data/d/155878.json