Van der Woude syndrome (VDWS) is a genetic disorder characterized by the combination of lower lip pits, cleft lip with or without cleft palate (CL/P), and cleft palate only (CPO).[1] The frequency of orofacial clefts ranges from 1:1000 to 1:500 births worldwide, and there are more than 400 syndromes that involve CL/P.[2] VWS is distinct from other clefting syndromes due to the combination of cleft lip and palate (CLP) and CPO within the same family. Other features frequently associated with VWS include hypodontia in 10-81% of cases, narrow arched palate, congenital heart disease, heart murmur and cerebral abnormalities, syndactyly of the hands, polythelia, ankyloglossia, and adhesions between the upper and lower gum pads.[3]
The association between lower lip pits and cleft lip and/or palate was first described by Anne Van der Woude in 1954. The worldwide disease incidence ranges from 1:100,000 to 1:40,000.[4]
^"Van der Woude syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2018-04-17.
^Malik S, Kakar N, Hasnain S, Ahmad J, Wilcox ER, Naz S (2010). "Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan". Clinical Genetics. 78 (3): 247–256. doi:10.1111/j.1399-0004.2010.01375.x. PMID 20184620. S2CID 205407851.
^Rizos M, Spyropoulos MN (2004). "Van der Woude syndrome: a review. Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic counselling, and treatment". European Journal of Orthodontics. 26 (1): 17–24. doi:10.1093/ejo/26.1.17. PMID 14994878.
^Lam AK, David DJ, Townsend GC, Anderson PJ (2010). "Van der Woude syndrome: dentofacial features and implications for clinical practice". Australian Dental Journal. 55 (1): 51–58. doi:10.1111/j.1834-7819.2009.01178.x. PMID 20415912.
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