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:
MedDRA:
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: Sort by abundance 

1
(HPO:0000220) Velopharyngeal insufficiency 10 / 7739
2
(HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
3
(HPO:0000600) Abnormality of the pharynx Very frequent [Orphanet] 22 / 7739
4
(HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
5
(HPO:0001608) Abnormality of the voice Very frequent [Orphanet] 126 / 7739
6
(OMIM) Congenital palatopharyngeal incompetence 1 / 7739
7
(OMIM) Cleft palate speech 1 / 7739
8
(HPO:0001426) Multifactorial inheritance 37 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

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 ...