Van Der Woude Syndrome – A Review

Aim: To review the causes, symptoms, treatment, prevalence and diagnosis of VanDerWoude Syndrome. Objective : This review aims at analysing the genetic defects and facts about this rare disease in human population. Background : VanDerWoude syndrome is an autosomal dominant syndrome characterized by a cleft lip or cleft palate, distinctive pits of the lower lips, or both. It is the most common syndrome associated with cleft lip or cleft palate. Many cases of VWS are caused by mutations in a gene called Interferon Regulatory Factor 6 (IRF6). VWS affects one of 40,000 to 100,000 infants. Other features associated with VWS include hypodontia, narrow arched palate, congenital heart disease, heart murmur and cerebral abnormalities, syndactyly of the hands, polythelia, ankyloglossia and adhesions between the lower and upper gum pads. Reasom : To create awareness about VanDerWoude Syndrome among the people INTRODUCTION: Among the many disturbances of development and growth that involve the oral and perioral structures, cleft lip and palate is perhaps the commonest. Dental literature is replete with syndromes associated with cleft lip and palate, one of which is Van derWoude syndrome. This syndrome (VWS) is one of the most common accounting for about 2% of all cases of Cleft Lip/Palate worldwide. VWS is a rare autosomal dominant cranio-facial disorder characterized by paramedian lower lip pits (fistula labiiinferioriscongenita), cleft palate and or cleft lip. VWS is a form of syndromic orofacialclefting with very high penetrance and varied expressivity.VWS clinically presents with congenital lip pits. These lip pits occur on paramedian portion of the vermillion border of the lip. In VWS, congenital lip pits occur in concurrence with cleft lip and/or cleft palate and represent the most common clinical problem occurring in 80% of the patients. Lip pits result due to notching of the lips at an early stage of development with fixation of tissues at the base of the notch or they may result from a failure of complete union of embryonic lateral sulci of lip. Other anomalies that are frequently associated with VWS include hypodontia, submucous cleft palate and bifid uvula. Infrequent anomalies include congenital adhesion of the jaw, narrow arched palate and ankyloglossia (tongue tie). It was suggested that genetic defect of lip pits is due to microdeletion on chromosome bands 1q32-q41.10. Other anomalies beside oral manifestation like limb anomalies, popliteal webs, brain abnormalities, accessory nipples, congenital heart defects are also seen.The syndrome affects about 1 in 1,00,000 – 2,00,000 people. There is no definite sex prediction. It is important to identify and treat these anomalies at an early stage thus improving the esthetics and function of the patient. MATERIALS: There were more than 50 articles about Van derWoude syndrome, in which most of them were case studies. Many articles stated that it is due to deformities of oral and perioral structures.Another set of articles explained about the the genetic mutation which causes this syndrome. A few articles were collected to study about the causes, symptoms and other related features of Van derWoude syndrome. DISCUSSION: Shweta Advani et al described a case report about a 7year old male child with a chief complaint of carious teeth in an article published in September 2012 in the journal of Contemporary Clinical Dentistry.On detailed general examination, it was seen that the patient was a treated case of unilateral cleft lip and palate, and two lip pits were present on the lower lip. When the lip was compressed there was mucous secretion. Intraoral examination revealed carious teeth with 16, 26, 36, and 46 and root stumps with 55, 64, and 65. A deep bite was also evident. The treatment planned was restoration of carious teeth followed by extraction of root stumps. The patient was also advised to undergo orthodontic treatment and a cosmetic lip correction for the lip pits. The occurrence of forms of VanderWoude’s syndrome should be kept in mind. It is important to diagnose these syndromes from oro facial digital syndrome and popliteal syndrome which manifests similar clinical features.Because the symptoms of these children are limited and because the affected individuals have normal intelligence, this disorder should not be confused with nonsyndromic cleft lip and palate. The treatment of such cases should be surgical excision of the labial and commissural pits if esthetics is a major concern.The treatment should be carried out in collaboration with plastic surgery, oral maxillofacial surgeons, and orthodontists. Other treatments like cross bite corrections, maxillary expansions, restorations, and extractions should also be carried out. A Trishala.A et al /J. Pharm. Sci. & Res. Vol. 8(6), 2016, 495-497