Ellis-van Creveld syndrome

Abstract

Ellis-van Creveld (EvC) syndrome or chondroectodermal dysplasia is an autosomal recessive disorder with characteristic clinical manifestations. The four principal characteristics are chondrodysplasia, polydactyly, ectodermal dysplasia and congenital heart defects. Its incidence in the general population is low. The oral manifestations of EvC syndrome include both soft tissues and teeth, but the dental literature on the subject is scarce. The present case describes the constant and variable oral findings in these patients, which can be diagnosed at any age, even during pregnancy. The presence of a variety of oral manifestations, such as fusion of upper lip to the gingival margin, presence of multiple frenula, abnormally shaped and microdontic teeth and congenitally missing teeth requires multidisciplinary dental treatment, with consideration for the high incidence of cardiac defects in these patients.

Ellis‐Van Creveld syndrome: dental management considerations and description of a new oral finding

“…The phenotypic features of EVC syndrome, due to mutations of the EVC1 and EVC2 genes located on chromosome 4p16 include short stature, polydactyly, dysplastic hair and nails, congenital heart defects, and oro‐dental abnormalities . The latter include natal teeth, hypodontia, enamel hypoplasia, malocclusion, malformed teeth, fusion of lips and labial gingivae, and hypertrophy of labiogingival fraenum…”

“…6 The phenotypic features of EVC syndrome, due to mutations of the EVC1 and EVC2 genes located on chromosome 4p16 include short stature, polydactyly, dysplastic hair and nails, congenital heart defects, and oro-dental abnormalities. 7,8 The latter include natal teeth, hypodontia, enamel hypoplasia, malocclusion, malformed teeth, fusion of lips and labial gingivae, and hypertrophy of labiogingival fraenum. 9 Recognition of oral features of EVC syndrome is important to differentiate it from similar chondrodystrophies such as Jeune dystrophy, McKusick-Kaufman syndrome, achondroplasia, and Weyers acrodental dysostosis.…”

Oral manifestations in Ellis-van Creveld syndrome: a case report

“…Other anomalies that may be present include musculoskeletal anomalies, i.e., low shoulders, a narrow rib cage, which frequently causes respiratory distress, similar to our case. Although congenital cardiac malformations occur in only 50-60% cases [1,6,8,9], they have been observed in this case. Mitral and tricuspid valve anomalies and the obvious malformations of the atrial and ventricular septa are some of the malformations described as the main cause of the lower life expectancy in these patients [6].…”

“…Although congenital cardiac malformations occur in only 50-60% cases [1,6,8,9], they have been observed in this case. Mitral and tricuspid valve anomalies and the obvious malformations of the atrial and ventricular septa are some of the malformations described as the main cause of the lower life expectancy in these patients [6]. In our case, the patient had all the characteristics of the symptom tetrad.…”

“…It can affect all races, and there is no predilection for sex; however, history of consanguineous marriage is present in 30% cases. The intelligence of affected patients is usually normal [4][5][6]. Nearly half of these patients die during childhood as a result of cardiopulmonary malformations.…”