Van der Woude syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
VWS Lip-pit syndrome Cleft lip and/or palate with mucous cysts of lower lip |
| Number of Symptoms | 11 |
| OrphanetNr: | 888 |
| OMIM Id: |
119300
604547 606713 |
| ICD-10: |
Q38.0 |
| UMLs: |
C0175697 |
| MeSH: |
C536528 |
| MedDRA: |
|
| Snomed: |
79261008 |
Prevalence, inheritance and age of onset:
| Prevalence: | 1.7 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal dominant Not applicable [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare developmental defect during embryogenesis Syndrome or malformation associated with head and neck malformations -Rare developmental defect during embryogenesis -Rare genetic disease -Rare maxillo-facial surgical disease -Rare otorhinolaryngologic disease |
Symptom Information:
|
|
(HPO:0000174) | Abnormality of the palate | Frequent [Orphanet] | 298 / 7739 | |||
|
|
(HPO:0000668) | Hypodontia | 81 / 7739 | ||||
|
|
(HPO:0000175) | Cleft palate | 349 / 7739 | ||||
|
|
(HPO:0000193) | Bifid uvula | 66 / 7739 | ||||
|
|
(HPO:0000196) | Lower lip pit | 4 / 7739 | ||||
|
|
(HPO:0009804) | Reduced number of teeth | Occasional [Orphanet] | 137 / 7739 | |||
|
|
(HPO:0000204) | Cleft upper lip | Frequent [Orphanet] | 193 / 7739 | |||
|
|
(HPO:0010286) | Abnormality of the salivary glands | Occasional [Orphanet] | 7 / 7739 | |||
|
|
(HPO:0100267) | Lip pit | Very frequent [Orphanet] | 9 / 7739 | |||
|
|
(HPO:0000202) | Oral cleft | Frequent [Orphanet] | 120 / 7739 | |||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|