Van der Woude syndrome and implications in Dental Medicine
Autor(a) principal: | |
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Data de Publicação: | 2018 |
Outros Autores: | |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10284/8596 |
Resumo: | There are many types of genetic anomalies that affect the development of orofacial structures. Van der Woude syndrome (VWS), also known as cleft palate, lip pits or lip pit papilla syndrome, is a rare autosomal dominant condition being considered the most common cleft syndrome. It is believed to occur in 1 in 35,000 to 1 in 100,000 individuals, based on data from Europe and Asia. It is characterized by the congenital association of lip sinuses with cleft lip and palate. These are the main traits of VWS and occur in 88% of affected individuals. Another common signal/symptom is hypodontia. Diagnosis of VWS can be done clinically, based on the presence of lip pits and/or other orofacial anomalies that can be present all together or isolated. Most of the development anomalies are congenital so, in most cases, clinical diagnosis can be done immediately after birth. Almost all cases of VWS are linked to a locus in chromosome 1 (q32-q41) also known as VWS locus 1. The IRF6 gene is located at this critical location and encodes the interferon regulatory factor 6. This gene is expressed in the palate, teeth, hair follicles, external genitals and skin. Mutations in this gene are responsible for the development of this pathology. Treatment of patients with this syndrome includes all surgical and multidisciplinary procedures for the correction of the presented anomalies. |
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Van der Woude syndrome and implications in Dental MedicineTreatmentChromosomeSyndromeMouthpieceThere are many types of genetic anomalies that affect the development of orofacial structures. Van der Woude syndrome (VWS), also known as cleft palate, lip pits or lip pit papilla syndrome, is a rare autosomal dominant condition being considered the most common cleft syndrome. It is believed to occur in 1 in 35,000 to 1 in 100,000 individuals, based on data from Europe and Asia. It is characterized by the congenital association of lip sinuses with cleft lip and palate. These are the main traits of VWS and occur in 88% of affected individuals. Another common signal/symptom is hypodontia. Diagnosis of VWS can be done clinically, based on the presence of lip pits and/or other orofacial anomalies that can be present all together or isolated. Most of the development anomalies are congenital so, in most cases, clinical diagnosis can be done immediately after birth. Almost all cases of VWS are linked to a locus in chromosome 1 (q32-q41) also known as VWS locus 1. The IRF6 gene is located at this critical location and encodes the interferon regulatory factor 6. This gene is expressed in the palate, teeth, hair follicles, external genitals and skin. Mutations in this gene are responsible for the development of this pathology. Treatment of patients with this syndrome includes all surgical and multidisciplinary procedures for the correction of the presented anomalies.Repositório Institucional da Universidade Fernando PessoaGagliardi, FláviaCardoso, Inês Lopes2020-03-03T13:12:13Z2020-02-28T16:17:13Z2018-01-01T00:00:00Z2018-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10284/8596eng2576-392Xcv-prod-36872110.21767/2576-392X.100017info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2022-09-06T02:07:58Zoai:bdigital.ufp.pt:10284/8596Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T15:45:28.553163Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Van der Woude syndrome and implications in Dental Medicine |
title |
Van der Woude syndrome and implications in Dental Medicine |
spellingShingle |
Van der Woude syndrome and implications in Dental Medicine Gagliardi, Flávia Treatment Chromosome Syndrome Mouthpiece |
title_short |
Van der Woude syndrome and implications in Dental Medicine |
title_full |
Van der Woude syndrome and implications in Dental Medicine |
title_fullStr |
Van der Woude syndrome and implications in Dental Medicine |
title_full_unstemmed |
Van der Woude syndrome and implications in Dental Medicine |
title_sort |
Van der Woude syndrome and implications in Dental Medicine |
author |
Gagliardi, Flávia |
author_facet |
Gagliardi, Flávia Cardoso, Inês Lopes |
author_role |
author |
author2 |
Cardoso, Inês Lopes |
author2_role |
author |
dc.contributor.none.fl_str_mv |
Repositório Institucional da Universidade Fernando Pessoa |
dc.contributor.author.fl_str_mv |
Gagliardi, Flávia Cardoso, Inês Lopes |
dc.subject.por.fl_str_mv |
Treatment Chromosome Syndrome Mouthpiece |
topic |
Treatment Chromosome Syndrome Mouthpiece |
description |
There are many types of genetic anomalies that affect the development of orofacial structures. Van der Woude syndrome (VWS), also known as cleft palate, lip pits or lip pit papilla syndrome, is a rare autosomal dominant condition being considered the most common cleft syndrome. It is believed to occur in 1 in 35,000 to 1 in 100,000 individuals, based on data from Europe and Asia. It is characterized by the congenital association of lip sinuses with cleft lip and palate. These are the main traits of VWS and occur in 88% of affected individuals. Another common signal/symptom is hypodontia. Diagnosis of VWS can be done clinically, based on the presence of lip pits and/or other orofacial anomalies that can be present all together or isolated. Most of the development anomalies are congenital so, in most cases, clinical diagnosis can be done immediately after birth. Almost all cases of VWS are linked to a locus in chromosome 1 (q32-q41) also known as VWS locus 1. The IRF6 gene is located at this critical location and encodes the interferon regulatory factor 6. This gene is expressed in the palate, teeth, hair follicles, external genitals and skin. Mutations in this gene are responsible for the development of this pathology. Treatment of patients with this syndrome includes all surgical and multidisciplinary procedures for the correction of the presented anomalies. |
publishDate |
2018 |
dc.date.none.fl_str_mv |
2018-01-01T00:00:00Z 2018-01-01T00:00:00Z 2020-03-03T13:12:13Z 2020-02-28T16:17:13Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10284/8596 |
url |
http://hdl.handle.net/10284/8596 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
2576-392X cv-prod-368721 10.21767/2576-392X.100017 |
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info:eu-repo/semantics/openAccess |
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openAccess |
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application/pdf |
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reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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1799130320820240384 |