Van der Woude syndrome

Van Der Woude syndrome (VDWS) is a genetic disorder and congenital malformation. People with VDWS have cleft lip with or without cleft palate, pits or mucous cysts on the lower lip, hypodontia, a hypernasal voice, cleft or bifid uvula, syngnathia, narrow high arched palate, and ankyloglossia. Extraoral manifestations include limb anomalies, popliteal webs, accessory nipples, congenital heart defects, and Hirschsprung disease. However, Van der Woude syndrome has variable phenotypic expression. ^[1] For example, some individuals affected by Van der Woude syndrome have isolated lip pits without any cleft syndrome.^[2] Affected individuals have normal intelligence. Ongoing research is being conducted to discover the genes involved in causing Van der Woude syndrome. A mutation in the gene IRF6 (interferon regulatory factor 6) has recently been discovered to be strongly associated with the disorder. ^{[3] [4] [5]}

VDWS is the most common syndromic form of cleft lip and palate (CLP), accounting for 2% of all cleft lip and palate cases. Approximately 70% of cases of CLP are isolated, meaning that there are no other health issues present. However, cases of CLP with Van der Woude syndrome are considered syndromic because the individuals exhibit other abnormalities in addition to the cleft lip/palate. Van der Woude syndrome was first characterized in 1954.^[6]

Genetics

VDWS is an autosomal dominant or sporadic inheritance caused by mutations of the IRF6 gene, located on chromosome 1 at 1q32-q41. (Popliteal pterygium syndrome can also be caused by mutations of this gene.)^[3][4]

See also

• Popliteal pterygium syndrome
• List of cutaneous conditions

References

1. ^ Sarode GS, Desai RS, Sarode SC, Kulkarni MA (2011). "Van der Woude syndrome with an unusual intraoral finding". Indian J Dent Res 22 (1): 164–5. doi:10.4103/0970-9290.79988. PMID 21525698. http://www.ijdr.in/article.asp?issn=0970-9290;year=2011;volume=22;issue=1;spage=164;epage=165;aulast=Sarode. 
2. ^ Etöz OA, Etöz A (September 2009). "Isolated lower lip fistulas in Van der Woude syndrome". J Craniofac Surg 20 (5): 1612–4. doi:10.1097/SCS.0b013e3181b14735. PMID 19816310. http://meta.wkhealth.com/pt/pt-core/template-journal/lwwgateway/media/landingpage.htm?issn=1049-2275&volume=20&issue=5&spage=1612. 
3. ^ ^{a b} Scioletti AP, Brancati F, Gatta V, et al. (September 2010). "Two novel mutations affecting splicing in the IRF6 gene associated with van der Woude syndrome". J Craniofac Surg 21 (5): 1654–6. doi:10.1097/SCS.0b013e3181ef69ef. PMID 20856073. http://meta.wkhealth.com/pt/pt-core/template-journal/lwwgateway/media/landingpage.htm?issn=1049-2275&volume=21&issue=5&spage=1654. 
4. ^ ^{a b} Dixon MJ, Marazita ML, Beaty TH, Murray JC (March 2011). "Cleft lip and palate: understanding genetic and environmental influences". Nat. Rev. Genet. 12 (3): 167–78. doi:10.1038/nrg2933. PMC 3086810. PMID 21331089. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=3086810. 
5. ^ Lam AK, David DJ, Townsend GC, Anderson PJ (March 2010). "Van der Woude syndrome: dentofacial features and implications for clinical practice". Aust Dent J 55 (1): 51–8. doi:10.1111/j.1834-7819.2009.01178.x. PMID 20415912. http://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0045-0421&date=2010&volume=55&issue=1&spage=51. 
6. ^ Van der Woude A (1954). "Fistula labii inferioris congenita and its association with cleft lip and palate". Am. J. Hum. Genet. 6 (2): 244–56. PMC 1716548. PMID 13158329. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1716548. 

External links

• Moghe GA, Kaur MS, Thomas AM, Raseswari T, Swapna M, Rao L (April-June 2010). "The role of 9qh+ in phenotypic and genotypic heterogeneity in a Van der Woude syndrome pedigree". Journal of Indian Society of Pedodontics and Preventive Dentistry 28 (2): 59–139. doi:10.4103/0970-4388.66749. PMID 20660977. 
• Van der Woude syndrome; Lip pit syndrome; Cleft lip and/or palate with mucous cysts of lower lip at NIH's Office of Rare Diseases
• Van der Woude syndrome 2 at NIH's Office of Rare Diseases
• Koillinen H, Wong FK, Rautio J, et al. (October 2001). "Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34". Eur. J. Hum. Genet. 9 (10): 747–52. doi:10.1038/sj.ejhg.5200713. PMID 11781685.