|Year : 2017 | Volume
| Issue : 2 | Page : 108-110
Van der Woude syndrome: A rare case report
Swati Phore1, Rahul Singh Panchal2
1 Department of Oral Medicine and Radiology, Private Practice, Jind, Haryana, India
2 Department of Prosthodontics, Private Practice, Jind, Haryana, India
|Date of Web Publication||8-Jan-2018|
Dr. Swati Phore
H. No. 59 (A) Hastsal, Near Vikaspuri, New Delhi - 110 059
Source of Support: None, Conflict of Interest: None
Van der Woude syndrome (VWS) is a rare autosomal dominant condition typically comprising the cleft lip or cleft palate and pits of the lower lips. The degree to which individuals carrying the gene are affected varies widely, even within families. The variable manifestations include lip pits alone, absent teeth, and isolated cleft lip and palate of varying degrees of severity, bifid uvula, ankyloglossia, and enamel hypoplasia. We report a case of VWS manifesting with bifid uvula, hypodontia, ankyloglossia, and enamel hypoplasia.
Keywords: Ankyloglossia, bifid uvula, hypodontia, Van der Woude
|How to cite this article:|
Phore S, Panchal RS. Van der Woude syndrome: A rare case report. Int J Oral Health Sci 2017;7:108-10
| Introduction|| |
Van der Woude syndrome (VWS) is a rare developmental, congenital malformation with autosomal dominant inheritance, high penetrance, and variable expressivity. The pathologic entity was first delineated by Demarquay  but was originally reported by Van der Woude.
The distinctive feature of VWS is the presence of lower lip pits and/or sinuses, which are present in approximately 85% of cases, but it may be absent in 15% of the cases. In some rare cases, a single barely visible pit might be the only distinguishable feature of VWS, and in others, it may be absent. Other anomalies that are frequently associated with VWS include hypodontia, submucous cleft palate and bifid uvula, and enamel hypoplasia.
Manifestations of the syndrome in other than the oral or facial areas are unusual. More extreme phenotypes in parents tend to produce more extreme expression in their children.
| Case Report|| |
A 21-year-old male patient [Figure 1] reported to the dental outpatient department, with the chief complaint of dirty teeth for 1 month. He had a deleterious habit of chewing gutka occasionally. Past dental and medical history was not significant. The patient gave a history of consanguineous marriage of his parents and the presence of cleft lip and palate in his younger brother. The IQ level of the patient was normal. On intraoral examination, he had thick, hyperplastic lingual frenum attached to the tip of the tongue [Figure 2], but he was not having any problem in swallowing or speech related to that. 31 was missing [Figure 3], and all the permanent first molars were decayed. Generalized enamel hypoplasia of teeth, high-arched palate [Figure 4], and congenital bifid uvula [Figure 5] were also observed. With parent's consent, the radiological investigation was done for further assessment. Orthopantomogram revealed no tooth bud of 31 [Figure 6]. Based on the clinical and radiographic evaluation, the diagnosis of hypodontia with respect to 31; caries with respect to 16, 26, 36, 46; generalized enamel hypoplasia; tongue ankyloglossia; and bifid uvula was made. Oral prophylaxis was advised for him and was kept under regular follow-up.
| Discussion|| |
VWS is dominantly inherited and occurs with the prevalence of approximately 1 in 60,000–1 in 75,000 live births, with no sex or race predilection. Although the gene has not yet been identified, it has been localized to the chromosome band 1q32-q41. The second VWS locus has been mapped to 1p34, and recently Kondo identified mutations in the gene encoding interferon regulatory factor 6 causing VWS. Approximately 30%–50% of all cases arise as de novo mutations.
As the specific gene for VWS is unknown, the diagnosis is made on a clinical basis by the presence of lip pits, oral clefting, hypodontia, and ankyloglossia. Because of the variable expression of the disorder, a first-degree relative (parent, child, and sibling) of a diagnosed patient is considered to be affected if they exhibit only one of the two features–either lip pits or an oral cleft.
Congenital lip pits are developmental defects that occur on the paramedian portion of the vermillion border of the lower lip. They are the most common manifestations of the syndrome occurring in 87.5% of all cases, and they are only manifestations of the syndrome in 66% of cases. But in some, they may be absent also.
Hypodontia is considered as a cardinal associated feature and has been observed in 10%–81% of all VWS patients.
Submucous cleft palate: it is common and may be easily missed on physical examination. Hypernasal voice and cleft or bifid uvula are clues to this diagnosis. It is possible as well that a bifid uvula is an isolated finding in certain individuals with the VWS.
Infrequent anomalies include congenital adhesion of the jaw (syngnathia), narrow-arched palate, and ankyloglossia (tongue tie).
In our case, bifid uvula, hypodontia, ankyloglossia, and enamel hypoplasia associated with a suggestive familial history were consistent with the diagnosis of VWS.
The reported incidences of extraoral manifestations are rare but include limb anomalies, popliteal webs, and brain abnormalities. Accessory nipples, congenital heart defects, and Hirschsprung's disease have also been reported.
It should be differentiated from popliteal pterygium syndrome in which anomalies of skin and genital anomalies are found.
| Conclusion|| |
More extreme phenotypes in parents tend to produce more extreme expression in their children. However, the lesser expressions of VWS are common and should be actively looked for when counseling families about cleft lip or cleft lip and palate. All the affected parents should be cautioned that they carry a risk of 50% for each child with a cleft lip or palate or both. The potential of embryoscopy to detect minor malformations such as cleft lip in early term pregnancy allows for detection of VWS.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]