ORPHA:888
Van der Woude syndrome
Synonyms: Cleft lip/palate with mucous cysts of lower lip · Lip-pit syndrome · VWS
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Van der Woude syndrome | Cleft lip/palate with mucous cysts of lower lip · Lip-pit syndrome · VWS |
| fr | Syndrome de Van der Woude | Syndrome de fente labiopalatine-fistules de la lèvre inférieure |
| de | Van-der-Woude-Syndrom | Lip-Pit-Syndrom · Lippenspalte und/oder Gaumenspalte mit Schleimzysten der Unterlippe · Unterlippenfisteln in fakultativer Kombination mit Spalten · VDWS |
| es | Síndrome de Van Der Woude | Labio leporino y/o paladar hendido con quistes mucosos del labio inferior · Síndrome de fosita labial · VWS |
| it | Sindrome di Van der Woude | Labio- e/o palatoschisi con cisti delle mucose del labbro inferiore · Sindrome della fossetta sul labbro · VWS |
| nl | Syndroom van Van der Woude | Gespleten lip en/of gehemelte met muceuze cysten van onderlip · Lip-pit-syndroom · VWS |
| pt | Síndrome Van Der Woude | Fenda labial e/ou palatina com quistos mucosos no lábio inferior · Síndrome de fossetas labiais |
| pl | Zespół Van der Woude | Rozszczep wargi i(lub) podniebienia z torbielami błony śluzowej wargi dolnej · VWS · Zespół dołków na wardze |
| cs | Van der Woudeho syndrom | Syndrom s jamkami na rtu · VWS · Rozštěp rtu nebo patra s mukózními cystami dolního rtu |
| uk | Синдром Ван дер Вуда | Розщілина губи/піднебіння зі слизовою кістою нижньої губи · Синдром заїди на губах · VWS |
| zh | Van der Woude综合征 | 唇裂/腭裂伴下唇粘液囊肿 |
| tr | Van der Woude sendromu | VWS · Lip-pit sendromu · Alt dudağın mukoza kistleri ile yarık dudak/damak |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 119300 | E | validated | |
| OMIM | 604547 | BTNT | validated | |
| OMIM | 606713 | BTNT | validated | |
| ICD-10 | Q38.0 | NTBT | inclusion | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0019508 | E | validated | |
| MeSH | C536528 | E | validated | |
| UMLS | C0175697 | E | validated | |
| GARD | 8414 | 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 (4):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:728642Genetic syndrome or malformation associated with head and neck malformations
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:156237Syndrome or malformation associated with head and neck malformations
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GRHL3 | Disease-causing germline mutation(s) in | Assessed | HGNC:25839 | ENSG00000158055 | 608317 | 1p36.11 | grainyhead like transcription factor 3 | 24360809[PMID] |
| IRF6 | Disease-causing germline mutation(s) in | Assessed | HGNC:6121 | ENSG00000117595 | 607199 | 1q32.2 | interferon regulatory factor 6 |
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Prevalence and incidence
10 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.7 / 100 000 | Finland | Value and class | Validated | 7459520[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.3 / 100 000 | France | Value and class | Validated | 22925539[PMID] |
| Point prevalence | 1-9 / 100 000 | — | France | Class only | Validated | 22925539[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.4 / 100 000 | Australia | Value and class | Validated | 20415912[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.85 / 100 000 | Taiwan, Province of China | Value and class | Validated | 18177185[PMID]_ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | — | Taiwan, Province of China | Class only | Validated | 18177185[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.9 / 100 000 | United States | Value and class | Validated | 9450872[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | United States | Class only | Validated | 9450872[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.7 / 100 000 | Australia | Value and class | Validated | 34626670[PMID] |
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
8 annotations · validated 2024-06-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100267 | Lip pit | |
| Frequent (79-30%) | ||
| HP:0000175 | Cleft palate | |
| HP:0000196 | Lower lip pit | |
| Occasional (29-5%) | ||
| HP:0010286 | Abnormal salivary gland morphology | |
| HP:0010296 | Ankyloglossia | |
| HP:0000193 | Bifid uvula | |
| HP:0000204 | Cleft upper lip | |
| HP:0000668 | Hypodontia | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 20301581[PMID]_22014507[PMID]_29569458[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/888
- This record as JSON: /data/d/888.json