Ellis-Van Crevald Syndrome-A Case Report

Ellis-van Crevald syndrome (EVCS) or,chondro-ectodermal dysplasia is a rare autosomal recessive disorder characterized by skeletal features including shortening of the limbs, postaxial polydactly, dysplastic nails and teeth and a range of dental anomalies. Classical EVC syndrome comprises of a tetrad of clinical manifestations of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac defects. While it arises in allethnic and racial groups, it is exceptionally common among the Amish.Herewith weare presenting a case of a 19 year old Asian Indian male patient with apparently normal parents but an affected sister with skeletal and dental features typical to the syndrome. A marked acromesomelic short stature, narrow thorax, polydactylyand dysplasticnails of fingers and toes. Radiographic features of cardiomegaly, short metacarpals and phalanges, fusion of the capitat and hamitate bones and areas of tibialosteolysis were also seen. The presence of a great variety of oral manifestations like abnormallyshaped and microdontic teeth, congenitally missing teeth and presence of multiple frenula were important findings.A holistic approach to such syndromic conditions is promptly required where multidisciplinarytreatment modalities are included and the dentist plays an important and fundamental role in management of the dental and oral manifestations and to help patient prevent more severe complications in later life.