Van der Woude syndrome


Van der Woude syndrome

Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB = 31926
ICD10 = ICD10|Q|38|0|q|38
ICD9 =
ICDO =
OMIM = 119300
OMIM_mult = OMIM2|606713
MedlinePlus =
eMedicineSubj = ped
eMedicineTopic = 2753
MeshID =

Van Der Woude syndrome (VDWS) consists of the following characteristics: cleft lip with or without cleft palate, isolated cleft palate, pits or mucous cysts on the lower lip, and hypodontia. It is the most common 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.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=]

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.)

In 2002 Kondo "et al." described a pair of monozygotic twins discordant for VDWS whose parents did not have the disorder.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] [cite web |url=http://www.nidcr.nih.gov/Research/ResearchResults/InterviewsOHR/TIS102002.htm |title=Cleft Lip and Palate: Van der Woude Syndrome |format= |work= |publisher=National Institute of Dental and Craniofacial Research |accessdate=]

See also

* Popliteal pterygium syndrome

References

External links

*OMIM3|119300 RareDiseases|8414|Van der Woude syndrome; Lip pit syndrome; Cleft lip and/or palate with mucous cysts of lower lip
*OMIM3|606713 RareDiseases|7846|Van der Woude syndrome 2
**cite journal |author=Koillinen H, Wong FK, Rautio J, "et al" |title=Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34 |journal=Eur. J. Hum. Genet. |volume=9 |issue=10 |pages=747–52 |year=2001 |month=Oct |pmid=11781685 |doi=10.1038/sj.ejhg.5200713 |url=


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