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Van der Woude syndrome(VWS1)

MedGen UID:
61233
Concept ID:
C0175697
Congenital Abnormality; Disease or Syndrome
Synonyms: Cleft lip and/or palate with mucous cysts of lower lip; IRF6-Related Disorders; Lip pit syndrome; VAN DER WOUDE SYNDROME 1; VWS1
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Van der Woude syndrome (79261008); Lip-pit-cleft lip syndrome (79261008)
 
Gene (location): IRF6 (1q32.2)
OMIM®: 119300

Disease characteristics

Excerpted from the GeneReview: IRF6-Related Disorders
IRF6-related disorders span a spectrum from isolated cleft lip and palate and Van der Woude syndrome (VWS) at the mild end to popliteal pterygium syndrome (PPS) at the more severe end. Individuals with VWS show one or more of the following anomalies: Congenital, usually bilateral, paramedian lower-lip fistulae (pits) or sometimes small mounds with a sinus tract leading from a mucous gland of the lip. Cleft lip (CL). Cleft palate (CP). Note: Cleft lip with or without cleft palate (CL±P) is observed about twice as often as CP only. Submucous cleft palate (SMCP). The PPS phenotype includes the following: CL±P. Fistulae of the lower lip. Webbing of the skin extending from the ischial tuberosities to the heels. In males: bifid scrotum and cryptorchidism. In females: hypoplasia of the labia majora. Syndactyly of fingers and/or toes. Anomalies of the skin around the nails. A characteristic pyramidal fold of skin overlying the nail of the hallux (almost pathognomonic). In some non-classic forms of PPS: filiform synechiae connecting the upper and lower jaws (syngnathia) or the upper and lower eyelids (ankyloblepharon). In both VWS and PPS, growth and intelligence are normal. [from GeneReviews]
Authors:
Brian C Schutte  |  Howard M Saal  |  Steven Goudy, et. al.   view full author information

Additional descriptions

From OMIM
Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome. Genetic Heterogeneity of van der Woude Syndrome Also see VWS2 (606713), caused by mutation in the GRHL3 gene (608317) on chromosome 1p36.  http://www.omim.org/entry/119300
From GHR
Van der Woude syndrome is a condition that affects the development of the face. Many people with this disorder are born with a cleft lip, a cleft palate (an opening in the roof of the mouth), or both. Affected individuals usually have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue on the lower lip may also occur. In some cases, people with van der Woude syndrome have missing teeth.People with van der Woude syndrome who have cleft lip and/or palate, like other individuals with these facial conditions, have an increased risk of delayed language development, learning disabilities, or other mild cognitive problems. The average IQ of individuals with van der Woude syndrome is not significantly different from that of the general population.  https://ghr.nlm.nih.gov/condition/van-der-woude-syndrome

Clinical features

Lower lip pit
MedGen UID:
396160
Concept ID:
C1861544
Finding
Depression located on the vermilion of the lower lip, usually paramedian.
Cleft secondary palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Cleft upper lip
MedGen UID:
892653
Concept ID:
C4020893
Anatomical Abnormality
A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVVan der Woude syndrome
Follow this link to review classifications for Van der Woude syndrome in Orphanet.

Recent clinical studies

Etiology

Wang Y, Sun Y, Huang Y, Pan Y, Jia Z, Ma L, Ma L, Lan F, Zhou Y, Shi J, Yang X, Zhang L, Jiang H, Jiang M, Yin A, Cheng J, Wang L, Yang Y, Shi B
Gene 2016 Aug 15;588(1):69-73. Epub 2016 Apr 26 doi: 10.1016/j.gene.2016.04.045. PMID: 27129939
Heliövaara A, Karhulahti R, Rautio J
J Plast Surg Hand Surg 2015;49(4):209-13. Epub 2014 Dec 17 doi: 10.3109/2000656X.2014.992904. PMID: 25516228
James O, Adeyemo WL, Emeka CI, Ogunlewe MO, Ladeinde AL, Butali A
Afr J Paediatr Surg 2014 Jan-Mar;11(1):52-5. doi: 10.4103/0189-6725.129235. PMID: 24647295Free PMC Article
Fan R, Flores RL, Faught PR, Lin J
Pediatr Dev Pathol 2013 Sep-Oct;16(5):343-7. Epub 2013 Aug 15 doi: 10.2350/13-02-1302-OA.1. PMID: 23947719
Chen CH, Liao HT, Shyu VB, Chen PK
Int J Oral Maxillofac Surg 2013 Feb;42(2):198-203. Epub 2013 Jan 3 doi: 10.1016/j.ijom.2012.11.018. PMID: 23290085

Diagnosis

James O, Adeyemo WL, Emeka CI, Ogunlewe MO, Ladeinde AL, Butali A
Afr J Paediatr Surg 2014 Jan-Mar;11(1):52-5. doi: 10.4103/0189-6725.129235. PMID: 24647295Free PMC Article
Pingul MM, Quintos JB
J Pediatr 2014 May;164(5):1235. Epub 2014 Jan 23 doi: 10.1016/j.jpeds.2013.12.039. PMID: 24461788
More CB, Varma S, Tailor M, Bhavsar K
Indian J Dent Res 2013 May-Jun;24(3):387-9. doi: 10.4103/0970-9290.118015. PMID: 24025891
Fan R, Flores RL, Faught PR, Lin J
Pediatr Dev Pathol 2013 Sep-Oct;16(5):343-7. Epub 2013 Aug 15 doi: 10.2350/13-02-1302-OA.1. PMID: 23947719
Nopoulos P, Richman L, Andreasen N, Murray JC, Schutte B
Genet Med 2007 Apr;9(4):213-8. doi: 10.1097GIM.0b013e3180335abd. PMID: 17438385

Therapy

Hills SE, Maddalozzo J
Otolaryngol Clin North Am 2015 Feb;48(1):209-23. doi: 10.1016/j.otc.2014.09.014. PMID: 25439555
Melo C, Gama-de-Sousa S, Almeida F, Rendeiro P, Tavares P, Cardoso H, Carvalho S
Gene 2013 Oct 15;529(1):186-9. Epub 2013 Aug 6 doi: 10.1016/j.gene.2013.07.031. PMID: 23928108
Castro CH, De Carvalho MF, Veloso DC, De Moraes M
Stomatologija 2012;14(2):60-4. PMID: 23037784
de Lima RL, Hoper SA, Ghassibe M, Cooper ME, Rorick NK, Kondo S, Katz L, Marazita ML, Compton J, Bale S, Hehr U, Dixon MJ, Daack-Hirsch S, Boute O, Bayet B, Revencu N, Verellen-Dumoulin C, Vikkula M, Richieri-Costa A, Moretti-Ferreira D, Murray JC, Schutte BC
Genet Med 2009 Apr;11(4):241-7. doi: 10.1097/GIM.0b013e318197a49a. PMID: 19282774Free PMC Article
Brookes JT, Canady JW
Cleft Palate Craniofac J 2007 Sep;44(5):555-7. doi: 10.1597/06-161.1. PMID: 17760491

Prognosis

Richardson S, Khandeparker RV
J Oral Maxillofac Surg 2016 Sep;74(9):1849.e1-1849.e10. Epub 2016 May 26 doi: 10.1016/j.joms.2016.05.023. PMID: 27321409
James O, Adeyemo WL, Emeka CI, Ogunlewe MO, Ladeinde AL, Butali A
Afr J Paediatr Surg 2014 Jan-Mar;11(1):52-5. doi: 10.4103/0189-6725.129235. PMID: 24647295Free PMC Article
Chen CH, Liao HT, Shyu VB, Chen PK
Int J Oral Maxillofac Surg 2013 Feb;42(2):198-203. Epub 2013 Jan 3 doi: 10.1016/j.ijom.2012.11.018. PMID: 23290085
Leslie EJ, Standley J, Compton J, Bale S, Schutte BC, Murray JC
Genet Med 2013 May;15(5):338-44. Epub 2012 Nov 15 doi: 10.1038/gim.2012.141. PMID: 23154523Free PMC Article
Rorick NK, Kinoshita A, Weirather JL, Peyrard-Janvid M, de Lima RL, Dunnwald M, Shanske AL, Moretti-Ferreira D, Koillinen H, Kere J, Mansilla MA, Murray JC, Goudy SL, Schutte BC
Am J Med Genet A 2011 Jun;155A(6):1314-21. Epub 2011 May 13 doi: 10.1002/ajmg.a.33980. PMID: 21574244Free PMC Article

Clinical prediction guides

Richardson S, Khandeparker RV
J Oral Maxillofac Surg 2016 Sep;74(9):1849.e1-1849.e10. Epub 2016 May 26 doi: 10.1016/j.joms.2016.05.023. PMID: 27321409
Chen CH, Liao HT, Shyu VB, Chen PK
Int J Oral Maxillofac Surg 2013 Feb;42(2):198-203. Epub 2013 Jan 3 doi: 10.1016/j.ijom.2012.11.018. PMID: 23290085
Leslie EJ, Standley J, Compton J, Bale S, Schutte BC, Murray JC
Genet Med 2013 May;15(5):338-44. Epub 2012 Nov 15 doi: 10.1038/gim.2012.141. PMID: 23154523Free PMC Article
Rorick NK, Kinoshita A, Weirather JL, Peyrard-Janvid M, de Lima RL, Dunnwald M, Shanske AL, Moretti-Ferreira D, Koillinen H, Kere J, Mansilla MA, Murray JC, Goudy SL, Schutte BC
Am J Med Genet A 2011 Jun;155A(6):1314-21. Epub 2011 May 13 doi: 10.1002/ajmg.a.33980. PMID: 21574244Free PMC Article
Nopoulos P, Richman L, Andreasen N, Murray JC, Schutte B
Genet Med 2007 Apr;9(4):213-8. doi: 10.1097GIM.0b013e3180335abd. PMID: 17438385

Recent systematic reviews

Brookes JT, Canady JW
Cleft Palate Craniofac J 2007 Sep;44(5):555-7. doi: 10.1597/06-161.1. PMID: 17760491

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