|Year : 2017 | Volume
| Issue : 2 | Page : 248-251
Van der woude syndrome: A report of four cases
Department of Pedodontics and Preventive Dentistry, Dr. R. Ahmed Dental College and Hospital, Kolkata, West Bengal, India
|Date of Web Publication||15-Dec-2017|
Department of Pedodontics and Preventive Dentistry, Dr. R. Ahmed Dental College and Hospital, 114 Ajc Bose Road, Kolkata - 700 014, West Bengal
Source of Support: None, Conflict of Interest: None
Van der Woude Syndrome (VWS) is a rare autosomal dominant disorder with high penetrance and variable expressivity. The condition occurs in about 1:100,000–1:40,000 stillborn or live births and is characterized by lower lip pits, cleft lip, and/or cleft palate. Associated features of VWS include ankyloglossia, high arched palate, limb anomalies, congenital heart defects bifid uvula and syngnathia. We report four interesting cases of VWS with orofacial features. None of the four patients had any family history of lip pits, cleft lip, and/or cleft palate. The first patient with VWS showed a fusion of primary mandibular anterior teeth and the fourth patient demonstrated a supernumerary mandibular incisor. These features are very unusual in patients with VWS.
Keywords: Cleft lip, cleft palate, hypodontia, lip pits, Van Der Woude syndrome
|How to cite this article:|
Goswami S. Van der woude syndrome: A report of four cases. Arch Med Health Sci 2017;5:248-51
| Introduction|| |
Van der Woude syndrome (VWS) is a rare genetic disorder characterized by the association of congenital pits of lower lip with cleft lip and/or cleft palate.,, The condition occurs in about 1:100,000–1:40,000 stillborn or live births. This dominantly inherited disorder (OMIM #119300) affects males and females, shows variable expressivity and high penetrance. VWS is one of the most common syndromes associated with orofacial cleft and accounts for approximately 1%–2% of individuals with cleft lip and palate. The majority of VWS cases have been linked to a microdeletion in chromosome 1q32-q41.10. However, recently an extra chromosomal locus at 1p34 has been identified.,, It has been suggested that mutation in the interferon regulatory factor-6 gene is responsible for VWS, although the exact mechanism is not clear.
In 1845, Demarquay (1945) first described lower lip pit and postulated that the condition occurs due to the indentation of central incisor. Many parents still subscribe this hypothesis even though the condition is present since birth months before the eruption of maxillary central incisors. Later in 1954, Anne Van der Woude first reported the association of congenital pits of the lower lip with cleft lip and palate. Congenital lower lip pits are present in 88% of all VWS patients, and in 65%–75% of the cases these are associated with cleft lip and palate. In this report, we describe four cases of VWS with orofacial features. The first patient showed a fusion of primary mandibular anterior teeth and the fourth patient exhibited mandibular supernumerary incisor. These features are very unusual in patients with VWS.
| Case Reports|| |
A 2-year-old male patient was referred to our department for a routine dental check-up. The patient had a history of right upper cleft lip and palate surgery at the age of 18 months. The patient was the youngest of the three siblings born of a nonconsanguineous marriage and a negative family history of cleft lip/palate and lip pits. On examination, the patient showed surgical scar on the upper operated right cleft lip and palate. Also seen was a pit on the lower lip right side of the midline. The paramedian lip pit was reported to be asymptomatic. Dental examination revealed primary dentition, missing maxillary right central incisor, and both lateral incisors and fusion of the primary right mandibular lateral incisor and canine [Figure 1]. Oral hygiene instruction was given and was kept on recall visit.
A 1½-year-old boy reported to our department for a routine dental check-up with a history of surgical correction for upper cleft lip and palate. He was the only child, and her family history of cleft lip/palate and lip pits was negative. On intraoral examination, surgical scar was visible in areas of hard palate. Extraoral examination showed paramedian lower lip pit [Figure 2]. Parents did not report any watery discharge from the lip pit during mealtime. He had no other anomalies and family history of cleft lip/palate and lip pit was negative. The clinical diagnosis of VWS was made.
A 9-year-old boy came to our department with the chief complaint of an irregular arrangement of upper front teeth. The medical history revealed that the boy had undergone surgical correction of upper cleft lip and palate. The patient was the only child born of a nonconsanguineous marriage and had a negative family history of cleft lip/palate and lip pits. Extraoral examination revealed surgical scar for the upper cleft lip and bilateral paramedian lower lip pits [Figure 3]. The lower lip pits were asymptomatic. Intraorally, surgical scar was observed in the hard palate. The permanent maxillary central and lateral incisors were not visible. Clinically, the patient was diagnosed as VWS. The patient was referred to the department of orthodontics for further evaluation.
A 7-year-old girl reported to our department with the chief complaint of decayed teeth. Her medical history was uneventful. On examination, a round depression was observed on the right side of the midline in the lower lip [Figure 4]. The condition was asymptomatic and present since birth. On palpation, the lower lip was normal in consistency, and there was no discharge on pressure. The upper lip appeared normal. The extraoral examination did not reveal any other abnormality. The intraoral examination displayed multiple carious teeth. Also seen were five permanent mandibular incisors. All the five mandibular incisors were morphologically similar. There was no evidence of cleft lip or palate. No other member of the family had any similar lesion. Based on history and clinical findings, the condition was diagnosed as isolated congenital paramedian lower lip pit.
The carious primary teeth and lingually erupted mandibular permanent incisor were extracted under local anesthesia.
| Discussion|| |
Although the condition has a varied expressivity, the most cases of VWS show lower lip pit, cleft lip and palate. Lam et al. in their study of 22 patients with VWS, observed cleft lip and palate in approximately 64% of cases. In another study by James et al. six out of 11 patients with VWS showed cleft lip and palate. In the present series, first three of the four cases showed these classic features while the fourth patient exhibited only lower lip pit.
Lip pits are rare congenital malformations seen on the lower lip, upper lip or the oral commissure. The condition generally presents as a unilateral or bilateral depression and has a predilection for the lower lip. Lower lip pits are also known as fistula labii inferioris, labial humps, labial cysts, labial fistulae, and paramedian sinuses of the lower lip.
These pits are usually circular or oval and generally show bilateral distribution, located on either side of the midline. The unilateral pits are observed mostly on the left side and rarely on the right side. In this report case no 1, 2, and 4 showed paramedian lower lip pits all situated on the right side of the midline. Only the case no 3 showed bilateral distribution of labial pits. According to Rizos and Spyropoulos, unilateral or median presentation of pit is considered to be the incomplete expression of the trait.
The exact etiology of lip pits is not known. It may result from notching of the lip at an early stage of development with fixation of tissues at the base of the notch or it may be due to a failure of complete union of embryonic lateral sulci of the lip. During the prenatal development, fusion of the mandibular arch and sulcus lateralis occurs at 5.5 weeks while the fusion of the maxillary and frontonasal processes takes place at 6 weeks. Probably, a common event may simultaneously disturb fusion in both locations resulting in the strong association between lip pits and cleft lip and/or palate.
Although lip pits are generally asymptomatic, in some cases they contain salivary glands. Watery discharge from these pits, especially during mealtime has been reported.,, Mild cases of lip pits require no treatment. In this report, none of the patients presented salivary discharge during meal time. However, surgical correction of these anomalies is recommended in more severe cases not only to improve esthetics but also to remove chronic inflammation and prevention of salivary discharge from lip pits.
Associated Features of VWS include ankyloglossia, high arched palate, limb anomalies, congenital heart defects bifid uvula and syngnathia., In the present series, none of the four patients showed any of these features of VWS. Dental anomalies are often present in patients with VWS. The most common being hypodontia, observed in 10%–81% of all cases of VWS. In this study, the age of the patient ranged from 18 months to 6 years. Hypodontia may not be evident in this age group. The first patient (case no 1) showed primary double teeth in the mandibular incisor region which is similar to the one reported by Sarode et al. One patient (case no 4) displayed a supernumerary mandibular incisor.
Differential diagnosis of VWS includes popliteal pterygium syndrome (PPS), orofacial digital syndrome (OFDS), and Hirschsprung's disease. Clinical features of PPS are lower lip pits, popliteal web, cleft lip and/or cleft palate, lower lip pits and anomalies of genitourinary system. Hirschsprung's disease is characterized by lip pits, cleft palate, and aganglionic megacolon. The diagnosis of OFDS is based on orodental, facial, digital, central nervous system abnormalities.
Lip pits in nonsyndromic individuals are rare with only a handful of cases reported so far. The primary care physician should evaluate the patient for other associated anomalies once the condition is recognized. Genetic counseling is also crucial because of its autosomal dominant nature. These patients carry a 50% risk of transmitting the trait to their off springs. In our patients, no consanguinity was reported among the parents. In addition, there was no history of a similar condition in the family. Approximately, 30%–50% of all cases of VWS arise as de novo mutations. In view of the nonfamilial involvement of the trait and the absence of other associated anomalies, the present cases may be considered as sporadic in nature.
| Conclusion|| |
The clinical features of VWS vary greatly and it is important that the dentists should keep in mind phenotypic variation of the condition in affected individuals. Although hypodontia is a significant phenotypic expression of VWS, other dental anomalies may also be present. Therefore, early identification and management of these anomalies at an appropriate time is necessary.
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 conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4]