ORPHA:99772
Cleft velum
Synonyms: Cleft soft palate · Cleft velum palatinum
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cleft velum | Cleft soft palate · Cleft velum palatinum |
| fr | Fente vélaire | Fente du palais mou · Fente du palais musculo-membraneux · Fente du voile du palais |
| de | Velumspalte | Gaumensegelspalte · Spalte des weichen Gaumens · Weichgaumenspalte |
| es | Hendidura del velo del paladar | Hendidura del paladar blando · Hendidura del velo palatino |
| it | Schisi del velo | Schisi del palato molle · Schisi del velo palatino |
| nl | Gespleten velum | Gespleten velum palatinum · Gespleten zacht verhemelte |
| pt | Fenda do velum | |
| pl | Rozszczep podniebienia miękkiego | = en |
| cs | Rozštěp měkkého patra | = en |
| uk | Розщілина мякого піднебіння | Розщілина мякого піднебіння · Розщілина velum palatinum |
| zh | 腭帆裂 | 腭裂 |
| tr | Yarık velum | Yarık yumuşak damak · Yarık velum palatinum |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 119570 | BTNT | validated | |
| ICD-10 | Q35.3 | E | specific | validated |
| ICD-11 | LA42.1 | E | specific | validated |
| MONDO | 0007338 | E | validated | |
| MeSH | C562950 | E | validated | |
| UMLS | C0432098 | 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:2014Cleft palate
rare developmental anomalies during embryogenesis; rare surgical maxillo-facial diseases
No children.
4
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] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only | Not yet 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.
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HPO phenotypes
13 annotations · validated 2019-06-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000185 | Cleft soft palate | |
| HP:0011469 | Nasal regurgitation | |
| HP:0200136 | Oral-pharyngeal dysphagia | |
| HP:0002033 | Poor suck | |
| HP:0010863 | Receptive language delay | |
| HP:0000220 | Velopharyngeal insufficiency | |
| Occasional (29-5%) | ||
| HP:0011951 | Aspiration pneumonia | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0001611 | Hypernasal speech | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0000403 | Recurrent otitis media | |
| HP:0011219 | Short face | |
| HP:0009088 | Speech articulation difficulties | |
Annotation source: 10595666[PMID]_14663236[PMID]_22523495[PMID]_27617110[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99772
- This record as JSON: /data/d/99772.json