Aims: To present a case of Ellis-van Creveld syndrome highlighting the systemic and oral manifestations and expand the phenotypic spectrum of the disorder. Case description: A 4-year-old female, with an initial diagnosis of Ellis-van Creveld syndrome, was referred for dental treatment. The patient had hexadactyly of the hands, thorax disproportionate to the shortened limbs, hypopigmented and dry skin, short stature, a wide gap between the 1st and 2nd toes of the right foot and markedly dystrophic toenails. The oral manifestations were upper labial frenulum causing large vestibule and absence of diastema, labiogingival frenulum, enamel hypoplasia, conical teeth, claw-like cusp, oligodontia, microdontia and malocclusion. Conclusions: Ellis-van Creveld syndrome is one among several syndromes with oral manifestations that demands the participation of a multidisciplinary team to better patient assessing, treatment and monitoring. Dentists have the leading role in the control and treatment of the oral manifestations.222109112Alves-Pereira, D., Berini-Aytés, L., Gay-Escoda, C., Ellis-Van Creveld Syndrome Case report and literature review (2009) Med Oral Patol Oral Cir Bucal, 14, pp. E340-E343da Silva, E.O., Janovitz, D., de Albuquerque, S.C., Ellis-van Creveld syndrome: report of 15 cases in an inbred kindred (1980) J Med Genet, 17, pp. 349-356Kurian, K., Shanmugan, S., Harsh Vardah, T., Chondroectodermal dysplasia (Ellis-van Creveld syndrome) A report of three cases with review of literature (2007) Indian J Dent Res, 18, pp. 31-34Hills, C.B., Kochilas, L., Schimmenti, L.A., Ellis-van Creveld syndrome and congenital heart defects: Presentation of an additional 32 cases (2011) Pediatr Cardiol, 32, pp. 977-982Tompson, S.W., Ruiz-Perez, V.L., Blair, H.J., Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients (2007) Hum Genet, 120, pp. 663-670Ruiz-Perez, V.L., Ide, S.E., Strom, T.M., Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis (2000) Nat Genet, 24, pp. 283-286Galdzicka, M., Patnala, S., Hirshman, M.G., A new gene, EVC2, is mutated in Ellis-van Creveld syndrome (2002) Mol Genet Metab, 77, pp. 291-295Ruiz-Perez, V.L., Tompson, S.W., Blair, H.J., Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome (2003) Am J Hum Genet, 72, pp. 728-732Ruiz-Perez, V.L., Goodship, J.A., Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands (2009) Am J Med Genet C Semin Med Genet, 151 C, pp. 341-351Biggerstaff, R.H., Mazaheri, M., Oral manifestations of the Ellis-van Creveld syndrome (1968) J Am Dent Assoc, 77, pp. 1090-1095Aminabadi, N.A., Ebrahimi, A., Oskouei, S.G., Chondroectodermal dysplasia (Ellis-van Creveld syndrome): a case report (2010) J Oral Sci, 52, pp. 333-336Hunter, M.L., Roberts, G.J., Oral and dental anomalies in Ellis van Creveld syndrome (chondroectodermal dysplasia): report of a case (1998) Intern J Paed Dent, 8, pp. 153-157Fukuda, A., Kato, K., Hasegawa, M., Recurrent knee valgus deformity in Ellis-van Creveld syndrome (2012) J Pediatr Orthop B, 21, pp. 352-355Cahuana, A., Palma, C., Oral manifestations in Ellis-van Creveld syndrome (2004) Report of five cases. Pediatr Dent., 26, pp. 277-282Souza, R.C., Martins, R.B., Okida, Y., Giovani, M., Ellis-van Creveld syndrome: oral manifestations and treatment (2010) J Health Sci Inst, 28, pp. 241-243Kalaskar, R., Kalaskar, R.A., Oral manifestations of Ellis-van Creveld syndrome (2012) Contemp Clin Dent, 3, pp. S55-S59