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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:
892334
Concept ID:
CN000007
Functional Concept
Source: HPO
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
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

Cleft palate
MedGen UID:
3107
Concept ID:
C0008925
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).
Partial congenital absence of teeth
MedGen UID:
43794
Concept ID:
C0020608
Congenital Abnormality
Tooth agenesis in some form is a common human anomaly that affects approximately 20% of the population. Although tooth agenesis is associated with numerous syndromes, several case reports describe nonsyndromic forms that are either sporadic or familial in nature, as reviewed by Gorlin et al. (1990). The incidence of familial tooth agenesis varies with each class of teeth. Most commonly affected are third molars (wisdom teeth), followed by either upper lateral incisors or lower second premolars; agenesis involving first and second molars is very rare. Also see 114600 and 302400. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). Faulty use of the terms, however, have confounded their use. The term 'partial anodontia' is obsolete (Salinas, 1978). Genetic Heterogeneity of Selective Tooth Agenesis Other forms of selective tooth agenesis include STHAG2 (602639), mapped to chromosome 16q12; STHAG3 (604625), caused by mutation in the PAX9 gene (167416) on chromosome 14q12; STHAG4 (150400), caused by mutation in the WNT10A gene (606268) on chromosome 2q35; STHAG5 (610926), mapped to chromosome 10q11; STHAG7 (616724), caused by mutation in the LRP6 gene (603507) on chromosome 12p13; STHAG8 (617073), caused by mutation in the WNT10B gene (601906); and STHAGX1 (313500), caused by mutation in the EDA gene (300451) on chromosome Xq13. A type of selective tooth agenesis that was formerly designated STHAG6 has been incorporated into the dental anomalies and short stature syndrome (DASS; 601216). Of 34 unrelated patients with nonsyndromic tooth agenesis, van den Boogaard et al. (2012) found that 56% (19 patients) had mutations in the WNT10A gene (STHAG4), whereas only 3% and 9% had mutations in the MSX1 (STHAG1) and PAX9 (STHAG3) genes, respectively. The authors concluded that WNT10A is a major gene in the etiology of isolated hypodontia. Genotype-Phenotype Correlations Yu et al. (2016) observed that the most frequently missing permanent teeth in WNT10B-associated oligodontia were the lateral incisors (83.3%), whereas premolars were missing only 51.4% of the time, which they noted was a pattern 'clearly different' from the oligodontia patterns resulting from WNT10A mutations. They also stated that the selective pattern in WNT10B mutants was different from that associated with mutations in other genes, such as MSX1, in which second premolars are missing, and PAX9, in which there is agenesis of molars.
Lower lip pit
MedGen UID:
396160
Concept ID:
C1861544
Finding
Depression located on the vermilion of the lower lip, usually paramedian.
Bifid uvula
MedGen UID:
504386
Concept ID:
CN000187
Finding
Uvula separated into two parts most easily seen at the tip.
Cleft upper lip
MedGen UID:
504391
Concept ID:
CN000197
Finding
A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Lower lip pit
MedGen UID:
396160
Concept ID:
C1861544
Finding
Depression located on the vermilion of the lower lip, usually paramedian.

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

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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 23290085
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. [Epub ahead of print] PMID: 21574244Free PMC Article

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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 23947719
Vigneswaran N, Demian N
Tex Dent J 2011 Aug;128(8):768, 772-3. PMID: 21957792

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. [Epub ahead of print] 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

Mangold E, Böhmer AC, Ishorst N, Hoebel AK, Gültepe P, Schuenke H, Klamt J, Hofmann A, Gölz L, Raff R, Tessmann P, Nowak S, Reutter H, Hemprich A, Kreusch T, Kramer FJ, Braumann B, Reich R, Schmidt G, Jäger A, Reiter R, Brosch S, Stavusis J, Ishida M, Seselgyte R, Moore GE, Nöthen MM, Borck G, Aldhorae KA, Lace B, Stanier P, Knapp M, Ludwig KU
Am J Hum Genet 2016 Apr 7;98(4):755-62. Epub 2016 Mar 24 doi: 10.1016/j.ajhg.2016.02.013. [Epub ahead of print] PMID: 27018475Free PMC Article
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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 21574244Free PMC Article

Clinical prediction guides

Mangold E, Böhmer AC, Ishorst N, Hoebel AK, Gültepe P, Schuenke H, Klamt J, Hofmann A, Gölz L, Raff R, Tessmann P, Nowak S, Reutter H, Hemprich A, Kreusch T, Kramer FJ, Braumann B, Reich R, Schmidt G, Jäger A, Reiter R, Brosch S, Stavusis J, Ishida M, Seselgyte R, Moore GE, Nöthen MM, Borck G, Aldhorae KA, Lace B, Stanier P, Knapp M, Ludwig KU
Am J Hum Genet 2016 Apr 7;98(4):755-62. Epub 2016 Mar 24 doi: 10.1016/j.ajhg.2016.02.013. [Epub ahead of print] PMID: 27018475Free 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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] 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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