A Síndrome de Van der Woude (SVW) é uma condição genética rara, presente desde o nascimento, que causa diferenças na formação de algumas partes do corpo. Ela se caracteriza por pequenos orifícios ou buraquinhos nas laterais do lábio inferior, lábio leporino (fenda labial) com ou sem fenda palatina (céu da boca fendido), ou apenas fenda palatina.
Introdução
O que você precisa saber de cara
A Síndrome de Van der Woude (SVW) é uma condição genética rara, presente desde o nascimento, que causa diferenças na formação de algumas partes do corpo. Ela se caracteriza por pequenos orifícios ou buraquinhos nas laterais do lábio inferior, lábio leporino (fenda labial) com ou sem fenda palatina (céu da boca fendido), ou apenas fenda palatina.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 5 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 10 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
2 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Not applicable.
Probable DNA-binding transcriptional activator. Key determinant of the keratinocyte proliferation-differentiation switch involved in appropriate epidermal development (By similarity). Plays a role in regulating mammary epithelial cell proliferation (By similarity). May regulate WDR65 transcription (By similarity)
NucleusCytoplasm
Van der Woude syndrome 1
An autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate.
Transcription factor playing important roles in primary neurulation and in the differentiation of stratified epithelia of both ectodermal and endodermal origin (By similarity). Binds directly to the consensus DNA sequence 5'-AACCGGTT-3' acting as an activator and repressor on distinct target genes (PubMed:21081122, PubMed:25347468). xhibits functional redundancy with GRHL2 in epidermal morphogenetic events and epidermal wound repair (By similarity). Exhibits functional redundancy with GRHL2 in e
Nucleus
Van der Woude syndrome 2
An autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate.
Variantes genéticas (ClinVar)
360 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 350 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
4 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome Van Der Woude
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans.
Orofacial clefts (OFCs) are one of the most common structural birth defects, with the prevalence of OFC varying across populations, and studies on the causes of OFCs in diverse populations are necessary, but still limited. We analyzed whole genome sequencing data on 419 parent-child trios from the Philippines, a population with a particularly high rate of OFC. To identify novel genes for OFCs, we studied both common variation and de novo variants (DNVs). We identified a significant enrichment in both loss-of-function (N = 62; P = 8.34 × 10-5) and protein-altering DNVs (N = 394; P = 1.49 × 10-7) among OFC probands. Among the genes individually enriched for DNVs was GRHL2 (P = 6.60 × 10-6), where there were two DNVs, a stop-gain and a frameshift deletion. We then queried OFC trios from other cohorts in the Gabriella Miller Kids First program (total N = 1254) and GeneMatcher and identified an 89 kb de novo deletion in GRHL2 and a de novo 8q22.3 microdeletion with one breakpoint in GRHL2. Additionally, within the common variant analyses we found significant gene x gene interactions with GRHL2. GRHL2 is a conserved transcription factor involved in embryonic development, with truncating mutations causing autosomal dominant progressive hearing loss and missense variants causing autosomal recessive ectodermal dysplasia. Heterozygous variation in its homolog, GRHL3, causes Van der Woude syndrome and isolated cleft palate. Additionally, mice deficient for either Grhl2 or Grhl3 have craniofacial anomalies, including facial and palatal clefts, strongly supporting GRHL2 as a risk locus for OFCs.
Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.
Van der Woude syndrome (VWS) is an autosomal dominant disorder characterized by lower lip pits and orofacial clefts (OFCs). With a prevalence of ∼1 in 35,000 live births, it is the most common form of syndromic clefting. Most VWS is attributed to variants in IRF6 (∼70%) or GRHL3 (∼5%), leaving up to 25% of individuals without a molecular diagnosis. Both IRF6 and GRHL3 function in a transcriptional regulatory network (TRN) governing differentiation of periderm, a single epithelial cell layer preventing pathological adhesions during palatogenesis. Periderm disruption can elicit a spectrum of phenotypes, including lip pits and OFCs, pterygia, and severe or fatal congenital anomalies. Understanding these mechanisms is vital in improving health outcomes for individuals with peridermopathies. We hypothesized genes encoding members of the periderm TRN, including kinases such as atypical protein kinase C (aPKC) acting upstream of IRF6, could harbor variants resulting in VWS. Consistent with this hypothesis, we identified 7 de novo variants (DNs) and 11 rare variants in PRKCI in 18 individuals with clinical features of syndromic OFCs and peridermopathies. Among the identified DNs, c.1148A>G (p.Asn383Ser) was found in five unrelated individuals, indicating a hotspot mutation. We functionally tested 12 proband-specific alleles in a zebrafish model. Three alleles, c.389G>A (p.Arg130His), c.1148A>G (p.Asn383Ser), and c.1155A>C (p.Leu385Phe), were confirmed loss-of-function variants. We also show that phosphomimetic Irf6 can rescue the effects of aPKC inhibition, supporting placement of PRKCI within this TRN. In summary, we identified PRKCI variants as causative for VWS and syndromic OFC with other features of peridermopathies.
Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.
Van der Woude syndrome (VWS) is an autosomal dominant disorder characterized by lower lip pits and orofacial clefts (OFCs). With a prevalence of approximately 1 in 35,000 live births, it is the most common form of syndromic clefting and may account for ~2% of all OFCs. The majority of VWS is attributed to genetic variants in IRF6 (~70%) or GRHL3 (~5%), leaving up to 25% of individuals with VWS without a molecular diagnosis. Both IRF6 and GRHL3 function in a transcriptional regulatory network governing differentiation of periderm, a single layer of epithelial cells that prevents pathological adhesions during palatogenesis. Disruption of this layer results in a spectrum of phenotypes ranging from lip pits and OFCs to severe pterygia and other congenital anomalies that can be incompatible with life. Understanding the mechanisms of peridermopathies is vital in improving health outcomes for affected individuals. We reasoned that genes encoding additional members of the periderm gene regulatory network, including kinases acting upstream of IRF6 (i.e., atypical protein kinase C family members, RIPK4, and CHUK), are candidates to harbor variants resulting in VWS. Consistent with this prediction, we identified 6 de novo variants (DNs) and 11 rare variants in PRKCI, an atypical protein kinase C, in 17 individuals with clinical features consistent with syndromic OFCs and peridermopathies. Of the identified DNs, 4 were identical p.(Asn383Ser) variants in unrelated individuals with syndromic OFCs, indicating a likely hotspot mutation. We also performed functional validation of 12 variants using the enveloping layer in zebrafish embryos, a structure analogous to the periderm. Three patient-specific alleles (p.Arg130His, p.(Asn383Ser), and p.Leu385Phe) were confirmed to be loss-of-function variants. In summary, we identified PRKCI as a novel causal gene for VWS and syndromic OFC with other features of peridermopathies.
Distinct IRF6 dysfunction mechanisms in syndromic orofacial clefts: Computational evidence for allosteric versus direct disruption.
Orofacial clefts (OC) are a congenital anomaly typically classified as syndromic or non-syndromic. Among the syndromic cases, Van der Woude syndrome (VWS) and popliteal pterygium syndrome (PPS) are primarily caused by pathogenic variants in IRF6, which encodes a transcriptional factor essential for orofacial development. Our aim is to identify and characterize IRF6 variants in two syndromic OC cases and assess their structural and functional consequences through computational modeling. Sequencing of IRF6 exons 3, 4, 7, and 9 was conducted in one proband with VWS and one proband with PPS, as well as their parents. Structural impacts were measured through comparative modeling based on the IRF4-DNA complex, followed by molecular dynamics simulations. Binding free energies and protein-DNA interactions were assessed using MM/GBSA calculations and hydrogen bond occupancy analysis. We identified two pathogenic variants: NP_006138.1:p.(Ala16Val) in a VWS proband and NP_006138.1:p.(Arg84Cys) in a PPS proband, both confirmed as de novo. Variants were classified as pathogenic by the American College of Medical Genetics and Genomics criteria, and by most pathogenicity predictors. Molecular dynamics simulations showed that NP_006138.1:p.(Ala16Val) induces long-range allosteric effects with increased structural fluctuations, while NP_006138.1:p.(Arg84Cys) directly disrupts critical DNA-binding interactions. MM/GBSA analysis demonstrated reduced DNA-binding affinity for both variants, with NP_006138.1:p.(Arg84Cys) showing the most severe electrostatic disruption. Our computational analyses suggest that pathogenic IRF6 variants may impact DNA binding through distinct molecular mechanisms: NP_006138.1:p.(Ala16Val) potentially through allosteric conformational changes and NP_006138.1:p.(Arg84Cys) likely through direct disruption of the protein-DNA interface.
EMG1 cooperates with GRHL3 in β-catenin-mediated surface ectoderm differentiation to regulate neural tube closure.
Grainyhead-like transcription factor 3 (GRHL3) directs surface ectoderm differentiation under the control of the canonical Wnt/β-catenin pathway. However, the molecular mechanisms that control nuclear GRHL3 expression through β-catenin are not fully understood. Here, we show that the essential for mitotic growth 1 (EMG1) protein constitutes a protein complex with GRHL3, and that EMG1 is required for correct nuclear localization of GRHL3, and for activation of the canonical Wnt signaling pathway. Conditional knockout mutation of Emg1 in the GRHL3-positive surface ectoderm causes neural tube defects at the level of the spinal cord, i.e. spina bifida. Additionally, the severity of compound mutant phenotypes of Emg1 and Grhl3 indicates that they interact genetically in neurulation and palate development. These lines of evidence demonstrate that EMG1 cooperates with GRHL3 in β-catenin-mediated surface ectoderm differentiation. Since the EMG1 mutation causes Bowen-Conradi syndrome and the GRHL3 mutation causes Van der Woude syndrome 2, both of which are associated with neural tube dysplasia and cleft palate, our study will help to improve our understanding of the pathogenic mechanisms of these two human genetic diseases.
Publicações recentes
Van der Woude syndrome with novel variants: a case series.
🥈 ObservacionalDistinct IRF6 dysfunction mechanisms in syndromic orofacial clefts: Computational evidence for allosteric versus direct disruption.
Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans.
Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.
EMG1 cooperates with GRHL3 in β-catenin-mediated surface ectoderm differentiation to regulate neural tube closure.
📚 EuropePMC209 artigos no totalmostrando 110
Van der Woude syndrome with novel variants: a case series.
Hong Kong medical journal = Xianggang yi xue za zhiDistinct IRF6 dysfunction mechanisms in syndromic orofacial clefts: Computational evidence for allosteric versus direct disruption.
Computational and structural biotechnology journalHaploinsufficiency of GRHL2 is associated with orofacial clefting in humans.
Human molecular geneticsRare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.
American journal of human geneticsEMG1 cooperates with GRHL3 in β-catenin-mediated surface ectoderm differentiation to regulate neural tube closure.
Development (Cambridge, England)Van Der Woude in Unilateral Cleft Lip: Phenotypic Patterns and Surgical Adaptations.
The Journal of craniofacial surgeryNeural crest and periderm-specific requirements of Irf6 during neural tube and craniofacial development.
Developmental biologyVan der Woude syndrome and amniotic band sequence: A clue to a common genetic etiology? A case report.
Genetics and molecular biologyPopliteal Pterygium Syndrome with a Family History of Van der Woude Syndrome: A Case Report.
Journal of the West African College of SurgeonsDNA Methylation Effects on Van der Woude Syndrome Phenotypic Variability.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationProgrammed RNA editing with an evolved bacterial adenosine deaminase.
Nature chemical biologySurgical Treatment of Lip Pits in Van der Woude Syndrome: A Preliminary Retrospective Study of 24 Patients.
Journal of mother and childA novel IRF6 gene mutation impacting the regulation of TGFβ2-AS1 in the TGFβ pathway: A mechanism in the development of Van der Woude syndrome.
Frontiers in geneticsRare Congenital Upper Lip Pit.
The Journal of craniofacial surgeryCongenital midline upper lip sinus in an infant.
BMJ case reports[Analysis of a Chinese pedigree affected with van der Woude syndrome due to variant of IRF6 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsVan Der Woude Syndrome: A Case Series at Chu D' Treichville, Abidjan, Cote D' Ivoire.
Journal of the West African College of SurgeonsNon-syndromic Oligodontia in Primary Dentition: A Report of a Rare Case.
CureusA Complex Intrachromosomal Rearrangement Disrupting IRF6 in a Family with Popliteal Pterygium and Van der Woude Syndromes.
GenesHospitalizations from Birth to 28 Years in a Population Cohort of Individuals Born with Five Rare Craniofacial Anomalies in Western Australia.
The Journal of pediatricsDNA methylation differences in monozygotic twins with Van der Woude syndrome.
Frontiers in dental medicineA Comprehensive Genetic Analysis of Slovenian Families with Multiple Cases of Orofacial Clefts Reveals Novel Variants in the Genes IRF6, GRHL3, and TBX22.
International journal of molecular sciencesCausal Variations at IRF6 Gene Identified in Van der Woude Syndrome Pedigrees.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationNovel IRF6 variant in orofacial cleft patients from Durban, South Africa.
Molecular genetics & genomic medicineVan der Woude Syndrome and Alopecia Areata: More Than a Fortuitous Association?
Actas dermo-sifiliograficasAssociation of single nucleotide polymorphisms in the IRF6 gene with nonsyndromic cleft lip with or without cleft palate in Kinh Vietnamese patients.
Molecular biology reportsNovel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder.
Italian journal of pediatricsCraniofacial characteristics in Van der Woude syndrome.
Oral diseasesLower lip pits with sinus tracts in Van der Woude syndrome: a case report and review of the literature.
Archives of plastic surgeryRare and Multiple Hypodontia in Van der Woude Syndrome: Case Report.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationMutations in Van Der Woude Families From Ethiopia.
The Journal of craniofacial surgeryDistribution and risk factors of cleft lip and palate on patients from a sample of Damascus hospitals - A case-control study.
HeliyonPopliteal Pterygium With Van Der Woude Syndrome.
CureusDental age, agenesis, and morphological anomalies in individuals with Van der Woude syndrome and isolated cleft palate.
European journal of orthodonticsAltered regulation of cell migration in IRF6-mutated orofacial cleft patients-derived primary cells reveals a novel role of Rho GTPases in cleft/lip palate development.
Cells & developmentA Novel IRF6 Frameshift Mutation in a Large Chinese Pedigree With Van der Woude syndrome.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationClinical Findings and Outcomes of Palatal Repair in 9 Patients With Van der Woude Syndrome.
Annals of plastic surgeryScreening of IRF6 Variants in Patients Subjected to Genetic Association Studies for Nonsyndromic Cleft Lip/Palate.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationA Novel Van der Woude Syndrome-Causing IRF6 Variant Is Subject to Incomplete Non-sense-Mediated mRNA Decay Affecting the Phenotype of Keratinocytes.
Frontiers in cell and developmental biologyA clinical and multi‑omics study of Van der Woude syndrome in three generations of a Chinese family.
Molecular medicine reportsTechnique for assisting excision of labial fistula in van der Woude syndrome.
The British journal of oral & maxillofacial surgeryA Synonymous Exonic Splice Silencer Variant in IRF6 as a Novel and Cryptic Cause of Non-Syndromic Cleft Lip and Palate.
GenesChange in Initial Tympanostomy Tube Placement Timing Yields Decreased Burden of Care Without Increased Complications in Patients With Cleft Lip and Palate.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationFunctional Characterization of a Novel IRF6 Frameshift Mutation From a Van Der Woude Syndrome Family.
Frontiers in geneticsTaurodontism in the first permanent molars in Van der Woude syndrome compared to isolated cleft palate.
European journal of orthodonticsNon-random distribution of deleterious mutations in the DNA and protein-binding domains of IRF6 are associated with Van Der Woude syndrome.
Molecular genetics & genomic medicineEpithelial Migration and Non-adhesive Periderm Are Required for Digit Separation during Mammalian Development.
Developmental cellNovel IRF6 mutations in Chinese Han families with Van der Woude syndrome.
Molecular genetics & genomic medicine[Genetic analysis of a family of Van der Woude syndrome].
Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciencesInterferon regulatory factor 6 is required for proper wound healing in vivo.
Developmental dynamics : an official publication of the American Association of AnatomistsMeta-Analysis of Grainyhead-Like Dependent Transcriptional Networks: A Roadmap for Identifying Novel Conserved Genetic Pathways.
GenesThe RIPK4-IRF6 signalling axis safeguards epidermal differentiation and barrier function.
NatureHemiscrotal agenesis with complete testicular descent in Van der Woude syndrome: a new phenotypic feature.
BMJ case reportsVan der Woude Syndrome: IRF6 Mutations.
Indian journal of pediatricsPatients With Cleft Lip and Palate Associated With Intraoral Fibrous Bands: A Report of 3 Cases and Review of Literature.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationVan der Woude Syndrome With a Novel Mutation in the IRF6 Gene.
The Journal of craniofacial surgerySurgical, Speech, and Audiologic Outcomes in Patients With Orofacial Cleft and Van der Woude Syndrome.
The Journal of craniofacial surgeryNovel mutations of IRF6 gene in Taiwanese Van der Woude syndrome patients.
Pediatrics and neonatologyMicrodeletion of the entire IRF6 gene in a Subsaharian African's family with Van der Woude syndrome.
Clinical dysmorphologyCongenital lower lip pits: Van der Woude syndrome.
Journal of clinical and experimental dentistry[Clinical and genetic features of Chinese kindreds with Van der Woude syndrome caused by interferon regulatory factor 6 mutation].
Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatologyDiagnosis of Tooth Agenesis in Childhood and Risk for Neoplasms in Adulthood.
Ochsner journalKeratinocytes Isolated From Individual Cleft Lip/Palate Patients Display Variations in Their Differentiation Potential in vitro.
Frontiers in physiologyCongenital midline sinus of the upper lip: A case report and review of literature.
International journal of surgery case reportsVan der Woude and Popliteal Pterygium Syndromes.
The Journal of craniofacial surgeryIRF6 and AP2A Interaction Regulates Epidermal Development.
The Journal of investigative dermatologyCombined Tongue-Palate Fusion With Alveolar Bands in a Patient With Pierre Robin Sequence and Van der Woude Syndrome.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationGenetic heterogeneity in Van der Woude syndrome: identification of NOL4 and IRF6 haplotype from the noncoding region as candidates in two families.
Journal of geneticsIdentification of somatic mutations in monozygotic twins discordant for psychiatric disorders.
NPJ schizophreniaClinical, histomorphological and therapeutic features of the Van der Woude Syndrome: literature review and presentation of an unusual case.
European journal of paediatric dentistryA novel non-coding RNA within an intron of CDH2 and association of its SNP with non-syndromic cleft lip and palate.
GeneWhole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes.
Journal of medical geneticsSCLERAL PITS IN CHOROIDEREMIA: Implications for Retinal Gene Therapy.
Retina (Philadelphia, Pa.)Association between genotype and phenotype of virulence gene in Van der Woude syndrome families.
Molecular medicine reportsTreatment of lower lip pits in Van der Woude syndrome: a systematic review.
International journal of oral and maxillofacial surgeryTracheal dilatation as sign of fetal airway obstruction in case of oral cavity tumor.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyLONG-TERM FOLLOW-UP OF PATIENTS WITH CHOROIDEREMIA WITH SCLERAL PITS AND TUNNELS AS A NOVEL OBSERVATION.
Retina (Philadelphia, Pa.)Surgical management of lower lip pits in Van der Woude syndrome.
Journal of stomatology, oral and maxillofacial surgeryLoss-of-Function GRHL3 Variants Detected in African Patients with Isolated Cleft Palate.
Journal of dental researchVan der Woude syndrome presenting as a single median lower lip pit with associated dental, orofacial and limb deformities: a rare case report.
Journal of the Korean Association of Oral and Maxillofacial SurgeonsDisrupted IRF6-NME1/2 Complexes as a Cause of Cleft Lip/Palate.
Journal of dental researchIRF6 and SPRY4 Signaling Interact in Periderm Development.
Journal of dental researchGrainyhead-like Transcription Factors in Craniofacial Development.
Journal of dental researchIRF6 expression in basal epithelium partially rescues Irf6 knockout mice.
Developmental dynamics : an official publication of the American Association of AnatomistsGeneration and characterization of a conditional allele of Interferon Regulatory Factor 6.
Genesis (New York, N.Y. : 2000)The prevalence, penetrance, and expressivity of etiologic IRF6 variants in orofacial clefts patients from sub-Saharan Africa.
Molecular genetics & genomic medicineConcurrent Van der Woude syndrome and Turner syndrome: A case report.
SAGE open medical case reportsGenetic Factors in Selected Complex Congenital Malformations with Cleft Defect.
Advances in clinical and experimental medicine : official organ Wroclaw Medical UniversityMultidisciplinary management of a patient with van der Woude syndrome: A case report.
International journal of surgery case reportsShared molecular networks in orofacial and neural tube development.
Birth defects researchNovel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing.
Journal of dental researchLack of Association between Missense Variants in GRHL3 (rs2486668 and rs545809) and Susceptibility to Non-Syndromic Orofacial Clefts in a Han Chinese Population.
PloS oneManagement of Lip Pits in Van der Woude Syndrome: A Clinical Classification With Difficulty Index.
Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial SurgeonsVan der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6.
American journal of medical genetics. Part APalatoglossal fusion with cleft palate and hypoplasia of cerebellar vermis.
Indian journal of plastic surgery : official publication of the Association of Plastic Surgeons of IndiaA Novel Interferon Regulatory Factor 6 Mutation in an Asian Family With Van der Woude Syndrome.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationAssociation study between Van der Woude Syndrome causative gene GRHL3 and nonsyndromic cleft lip with or without cleft palate in a Chinese cohort.
GeneA peripherally inserted central line in a preterm infant.
Journal of paediatrics and child healthInterferon Regulatory Factor 6 Controls Proliferation of Keratinocytes From Children With Van der Woude Syndrome.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationSequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate.
American journal of human geneticsAnkyloglossia with cleft lip: A rare case report.
Journal of Indian Society of PeriodontologyComplex intrachromosomal rearrangement in 1q leading to 1q32.2 microdeletion: a potential role of SRGAP2 in the gyrification of cerebral cortex.
Molecular cytogeneticsIrf6 directly regulates Klf17 in zebrafish periderm and Klf4 in murine oral epithelium, and dominant-negative KLF4 variants are present in patients with cleft lip and palate.
Human molecular geneticsIRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 families.
Clinical geneticsToward an orofacial gene regulatory network.
Developmental dynamics : an official publication of the American Association of AnatomistsCongenital midline sinus of the upper lip.
Singapore medical journalDisease-associated mutations in IRF6 and RIPK4 dysregulate their signalling functions.
Cellular signallingGenome-wide copy number scan identifies IRF6 involvement in Van der Woude syndrome in an Indian family.
Genetics researchCongenital Symmetrical Lower Lip Pits: Van der Woude Syndrome.
Oman medical journalA Japanese family with popliteal pterygium syndrome.
Case reports in plastic surgery & hand surgeryAssociações
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Síndrome Van Der Woude
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans.
- Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.
- Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.
- Distinct IRF6 dysfunction mechanisms in syndromic orofacial clefts: Computational evidence for allosteric versus direct disruption.
- EMG1 cooperates with GRHL3 in β-catenin-mediated surface ectoderm differentiation to regulate neural tube closure.
- Van der Woude syndrome with novel variants: a case series.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:888(Orphanet)
- MONDO:0019508(MONDO)
- GARD:8414(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q2033532(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
