ORPHA:2291
Congenital velopharyngeal incompetence
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare otorhinolaryngologic malformation characterized by the isolated finding of a short and immobile soft palate with anatomical disproportion of the velopharyngeal structures, preventing velopharyngeal closure. Patients present with delayed speech development and hypernasal speech.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital velopharyngeal incompetence | |
| fr | Incompétence vélopharyngienne congénitale | |
| de | Velopharyngeale Funktionsstörungen, kongenitale | |
| es | Incompetencia velofaríngea congénita | |
| it | Insufficenza velofaringea congenita | |
| nl | Congenitale velofaryngeale incompetentie | |
| pt | Disfunção velo-faringea congénita | |
| pl | Wrodzona niewydolność podniebienno-gardłowa | |
| cs | Vrozená velofaryngeální inkompetence | |
| uk | Вроджена велофарингеальна недостатність | |
| zh | 先天性腭咽闭合不全 | |
| tr | Doğumsal velofarengeal yetersizlik |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 167500 | E | validated | |
| ICD-10 | Q38.8 | NTBT | attributed | validated |
| ICD-11 | LA50 | E | specific | validated |
| MONDO | 0008180 | E | validated | |
| UMLS | C1997202 | E | validated | |
| GARD | 5470 | 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 (2):
- ORPHA:435609Genetic larynx anomaly
rare genetic diseases - ORPHA:156249Larynx anomaly
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 37 cases | Worldwide | Case(s) | Validated | 7296935[PMID]_12887789[PMID]_11903361[PMID]_14986834[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 7296935[PMID]_12887789[PMID]_11903361[PMID]_14986834[PMID]_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
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000174 | Abnormal palate morphology | |
| HP:0000600 | Abnormality of the pharynx | |
| HP:0001608 | Abnormality of the voice | |
| HP:0000220 | Velopharyngeal insufficiency | |
| Frequent (79-30%) | ||
| HP:0000365 | Hearing impairment | |
Run the differential on the 4 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2291
- This record as JSON: /data/d/2291.json