Congenital velopharyngeal incompetence
General Information (adopted from Orphanet):
Synonyms, Signs: |
VELOPHARYNGEAL INSUFFICIENCY VELOPHARYNGEAL INCOMPETENCE VPI |
Number of Symptoms | 8 |
OrphanetNr: | 2291 |
OMIM Id: |
167500
|
ICD-10: |
J39.2 |
UMLs: |
C1997202 |
MeSH: |
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MedDRA: |
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Snomed: |
427791009 |
Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal dominant inheritance Multifactorial [Omim] |
Age of onset: |
|
Disease classification (adopted from Orphanet):
Parent Diseases: |
Larynx anomaly
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
|
(HPO:0000220) | Velopharyngeal insufficiency | 10 / 7739 | ||||
|
(HPO:0000174) | Abnormality of the palate | Very frequent [Orphanet] | 298 / 7739 | |||
|
(HPO:0000600) | Abnormality of the pharynx | Very frequent [Orphanet] | 22 / 7739 | |||
|
(HPO:0000365) | Hearing impairment | Frequent [Orphanet] | 539 / 7739 | |||
|
(HPO:0001608) | Abnormality of the voice | Very frequent [Orphanet] | 126 / 7739 | |||
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(OMIM) | Congenital palatopharyngeal incompetence | 1 / 7739 | ||||
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(OMIM) | Cleft palate speech | 1 / 7739 | ||||
|
(HPO:0001426) | Multifactorial inheritance | 37 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Clinical Description OMIM |
Congenital palatopharyngeal incompetence is characterized by cleft palate speech (rhinolalia aperta) in the absence of overt cleft palate. About a fourth of cases are 'unmasked' by adenoidectomy. Abnormalities of the uvula, soft palate and hard palate may be ... |