Van der woude syndrome

T. Elien, D. N. Kamilla, E. I. Auerkari

Research output: Contribution to journalConference articlepeer-review

Abstract

Orofacial clefts (OFCs) are the most common craniofacial birth defect in all populations worldwide and include cleft lip with or without cleft palate (CL/P) and cleft palate alone (CP). Approximately 70% of OFC are non syndromic while 30 % are syndromic. Syndromic OFCs are often caused by structural chromosomal anomalies or by coding mutations in a single gene. The most common OFC syndrome is Van der Woude syndrome (VWS, MIM #119300) which has 2% of all OFCs with an overall prevalence of 1/35,000-1/100,000 live births. The characteristic features of Van der Woude syndrome are orofacial clefts and congenital lower lip pits. IRF6 or GRHL3 plays an important role in VWS mutations. Van der Woude syndrome is inherited in an autosomal dominant pattern, mostly an affected person has one parent with the condition. Patients with Van der Woude Syndrome who has OFCs increased the risk of delayed language development, learning disabilities, or other mild cognitive problems. The average IQ of individuals with van der Woude syndrome is not significantly different. IRF6 or GRHL3 plays an important role in VWS mutations. The IRF6 protein is active in cells that give rise to tissues in the head and face. A shortage of the IRF6 protein affects the development and maturation of tissues in the face, resulting in the signs and symptoms of van der Woude syndrome such as OFCs. GRHL3 were shown to be required for the development of the periderm, and an important player in the IRF6 dependent pathway of periderm development. In this review, author will explain further about Van der Woude Syndrome and review the literature available on recent studies toward the caused of Van der Woude Syndrome whether it is developed from IRF6 genes.

Original languageEnglish
Article number012089
JournalJournal of Physics: Conference Series
Volume1943
Issue number1
DOIs
Publication statusPublished - 14 Jul 2021
Event10th International Seminar on New Paradigm and Innovation of Natural Sciences and itsApplication, ISNPINSA 2020 - Virtual, Online, Indonesia
Duration: 24 Sep 202025 Sep 2020

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