Van der Woude syndrome 2260123 215304035 2008-05-27T16:42:04Z DOI bot 6652755 Citation maintenance. You can [[WP:DOI|use this bot]] yourself! Please [[User:DOI_bot/bugs|report any bugs]]. {{Infobox_Disease | Name = {{PAGENAME}} | Image = | Caption = | DiseasesDB = 31926 | ICD10 = {{ICD10|Q|38|0|q|38}} | ICD9 = | ICDO = | OMIM = 119300 | MedlinePlus = | eMedicineSubj = ped | eMedicineTopic = 2753 | MeshID = }} '''Van Der Woude syndrome''' (VDWS) consists of the following characteristics: [[cleft lip and palate|cleft lip]] with or without [[cleft palate]], isolated cleft palate, pits or [[mucous]] [[cyst]]s on the lower [[lip]], and [[hypodontia]]. It is the most common [[syndrome|syndromic]] form of cleft lip and palate (CLP), accounting for 2% of all CLP cases (usually CLP is nonsyndromic). Affected individuals have normal intelligence. It was first characterized in 1954.<ref name="pmid13158329">{{cite journal |author=Van der Woude A |title=Fistula labii inferioris congenita and its association with cleft lip and palate |journal=Am. J. Hum. Genet. |volume=6 |issue=2 |pages=244–56 |year=1954 |pmid=13158329 |doi=}}</ref> {{context}} ==Genetics== VDWS is an autosomal dominant or sporadic inheritance caused by [[mutation]]s of the [[IRF6]] [[gene]], located on [[chromosome 1]] at 1q32-q41. ([[Popliteal pterygium syndrome]] can also be caused by mutations of this gene.) In [[2002]] Kondo ''et al.'' described a pair of [[monozygotic]] twins discordant for VDWS whose parents did not have the disorder.<ref name="pmid12219090">{{cite journal |author=Kondo S, Schutte BC, Richardson RJ, ''et al'' |title=Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes |journal=Nat. Genet. |volume=32 |issue=2 |pages=285–9 |year=2002 |pmid=12219090 |doi=10.1038/ng985}}</ref> == See also == * [[Popliteal pterygium syndrome]] ==References== <references/> ==External links== * [http://www.nidcr.nih.gov/NewsAndReports/Media/InsideScoop102002.htm NIDCR] {{Congenital malformations and deformations of digestive system}} [[Category:Genetic disorders]] {{Genetic-disorder-stub}} [[fr:Syndrome de Van der Woude]] [[pl:Zespół van der Woude]]