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.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H01927 Van der Woude syndrome
Van der Woude syndrome: a review. Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic counselling and treatment.
Peyrard-Janvid M, Leslie EJ, Kousa YA, Smith TL, Dunnwald M, Magnusson M, Lentz BA, Unneberg P, Fransson I, Koillinen HK, Rautio J, Pegelow M, Karsten A, Basel-Vanagaite L, Gordon W, Andersen B, Svensson T, Murray JC, Cornell RA, Kere J, Schutte BC
Title
Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development.
