VAN DER WOUDE SYNDROME 1

General Information (adopted from Orphanet):

Synonyms, Signs: CLEFT LIP AND/OR PALATE WITH MUCOUS CYSTS OF LOWER LIP
LIP-PIT SYNDROME
VDWS
PIT
LPS
VWS1
Number of Symptoms 5
OrphanetNr:
OMIM Id: 119300
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000668) Hypodontia 81 / 7739
2
(HPO:0000175) Cleft palate 349 / 7739
3
(HPO:0000204) Cleft upper lip 193 / 7739
4
(HPO:0000193) Bifid uvula 66 / 7739
5
(HPO:0000196) Lower lip pit 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome.

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Clinical Description OMIM In 3 generations of a family, Levy (1962) found malformations of the lower lip consisting of symmetrical lumps. Two sibs had cleft palate in addition to the lip anomaly. The literature on this syndrome was analyzed by van ...
Molecular genetics OMIM In efforts to clone the VWS gene, Watanabe et al. (2001) analyzed 900 kb of genomic sequence from the critical region of 1q32-q41. They found a polymorphism within a polymorphism that is a deletion/insertion (del/ins) polymorphism with a ...