Van der Woude syndrome

Definition:

Van der Woude syndrome (VWS), the most frequent form of syndromic clefting, is a rare developmental, congenital malformation with autosomal dominant inheritance, high penetrance, and variable expressivity. Clinical manifestation includes bilateral midline lower lip pits, cleft lip, and cleft palate along with hypodontia. The other associated features of VWS which may or may not be present are hypoplasia, ankyloglossia, high arched palate, limb anomalies, congenital heart defects, and so forth. Popliteal pterygium syndrome (PPS) is an allelic syndrome of VWS. These syndromes emanate mainly from etiologic variants in IRF6 gene, though GRHL3 has been shown to be mutated in about 5% of VWS patients that lack etiologic variants in IRF6. Etiologic IRF6 variants account for over 70% of cases of VWS. The treatment of VWS patients includes all necessary surgical and multidisciplinary procedures for the correction of serious anomalies including clefts.

References:

[1]. Maria Rizos, et al. Van der Woude syndrome: a review. Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic counselling and treatment. Eur J Orthod. 2004 Feb;26(1):17-24. [Content Brief]

[2]. Myriam Peyrard-Janvid, et al. Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development. Am J Hum Genet. 2014 Jan 2;94(1):23-32. [Content Brief]

[3]. Pallavi K Deshmukh, et al. Van der woude syndrome with short review of the literature. Case Rep Dent. 2014;2014:871460. [Content Brief]

[4]. Shinji Kondo, et al. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet. 2002 Oct;32(2):285-9. [Content Brief]

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