Van der Woude syndrome
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2008-05-27T16:42:04Z
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{{Infobox_Disease
| Name = {{PAGENAME}}
| Image =
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| DiseasesDB = 31926
| ICD10 = {{ICD10|Q|38|0|q|38}}
| ICD9 =
| ICDO =
| OMIM = 119300
| MedlinePlus =
| eMedicineSubj = ped
| eMedicineTopic = 2753
| MeshID =
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'''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>
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==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]]