Chondroectodermal Dysplasia: A Rare Syndrome

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Abstract

Chondroectodermal dysplasia (Ellis-Van Creveld syndrome) is a rare autosomal recessive congenital abnormality. This syndrome is characterized by a spectrum of clinical findings, among which chondrodystrophy, polydactyly, ectodermal dysplasia, and congenital cardiac anomalies are the most common. It is imperative to not overlook the cardiac complications in patients with this syndrome during dental procedures. The case presented here, although quite rare, was detected under normal conditions and can be alarming for dental care providers.

Clinical reports outline the classical and unusual oral and dental manifestations, which help health care providers diagnose chondroectodermal dysplasia, and refer patients with this syndrome to appropriate health care professionals to receive treatment to prevent further cardiac complications and bone deformities.

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Ellis-Van Creveld syndrome

Geneviève Baujat, Martine Le Merrer (2007)

Ellis-van Creveld syndrome (EVC) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. It is a rare disease with approximately 150 cases reported worldwide. The exact prevalence is unknown, but the syndrome seems more common among the Amish community. Prenatal abnormalities (that may be detected by ultrasound examination) include narrow thorax, shortening of long bones, hexadactyly and cardiac defects. After birth, cardinal features are short stature, short ribs, polydactyly, and dysplastic fingernails and teeth. Heart defects, especially abnormalities of atrial septation, occur in about 60% of cases. Cognitive and motor development is normal. This rare condition is inherited as an autosomal recessive trait with variable expression. Mutations of the EVC1 and EVC2 genes, located in a head to head configuration on chromosome 4p16, have been identified as causative. EVC belongs to the short rib-polydactyly group (SRP) and these SRPs, especially type III (Verma-Naumoff syndrome), are discussed in the prenatal differential diagnosis. Postnatally, the essential differential diagnoses include Jeune dystrophy, McKusick-Kaufman syndrome and Weyers syndrome. The management of EVC is multidisciplinary. Management during the neonatal period is mostly symptomatic, involving treatment of the respiratory distress due to narrow chest and heart failure. Orthopedic follow-up is required to manage the bones deformities. Professional dental care should be considered for management of the oral manifestations. Prognosis is linked to the respiratory difficulties in the first months of life due to thoracic narrowness and possible heart defects. Prognosis of the final body height is difficult to predict.

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Chondroectodermal dysplasia (Ellis van Creveld syndrome): a report of three cases with review of literature.

K. M. Kurian, M. Shanmugam, T Harsh Vardah … (2015)

Chondroectodermal dysplasia is a rare mesenchymal - ectodermal dysplasia first described in 1940 by Richard W.B. Ellis and Simon van Creveld now known as Ellis van Creveld syndrome. It is also known as Mesvectodermal dysplasia. Majority of cases were characteristically seen in one particular inbred population from the Amish community of Lancaster County, Pennsylvania, U.S.A. The syndrome manifests with several skeletal anomalies, oral mucosal and dental anomalies, congenital cardiac defects and nail dysplasia. Ellis van Creveld syndrome may be differentiated from other chondrodystrophies like achondroplasia, chondroplasia punctata, asphyxiating thorasic dystrophy and Morquio's syndrome. The presence of oral mucosal and dental alterations like notching of the lower alveolar process, fusion of the upper lip with gingival mucosal margin, occasional presence of neonatal teeth, oligodontia and conical shape of anterior teeth will confirm the diagnosis of Ellis van Creveld syndrome and hence its importance to dentists.

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Ellis-van Creveld syndrome in an Indian child: a case report

K.M. Veena, H Jagadishchandra, Prasanna Kumar Rao … (2011)

Ellis-van Creveld syndrome is a rare congenital genetic disorder having autosomal recessive inheritance. It is a syndrome affecting the Amish population of Pennsylvania in USA with prevalence rate of 1/5,000 live at birth. In non-Amish population, the birth prevalence is 7/1,000,000. The syndrome is characterized by bilateral postaxial polydactyly of the hands, chondrodysplasia of long bones resulting in acromesomelic dwarfism, ectodermal dysplasia affecting nails as well as teeth and congenital heart malformation. There were very rare reports of this syndrome in dentistry. The present case focuses on the striking and constant oral findings of these patients, which are the main diagnostic features of this syndrome. Since the oral manifestations affect the esthetic, speech, and jaw growth of the child, the dentists have an important role to play in proper management of such case.

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Author and article information

Journal

Journal ID (nlm-ta): J Dent (Tehran)

Journal ID (iso-abbrev): J Dent (Tehran)

Title: Journal of Dentistry (Tehran, Iran)

Publisher: Tehran University of Medical Sciences

ISSN (Print): 1735-2150

ISSN (Electronic): 2008-2185

Publication date (Print): May 2014

Publication date (Electronic): 31 May 2014

Volume: 11

Issue: 3

Pages: 361-364

Affiliations

[1 ]Resident, Department of Pediatric Dentistry, Faculty of Dentistry, Isfahan University of Medical Sciences, Isfahan, Iran

[2 ]Associate Professor of Pediatric Dentistry, Isfahan University of Medical Sciences, Isfahan, Iran

[2 ]Resident, Department of Prosthodontics, Faculty of Dentistry, Isfahan University of Medical Sciences, Isfahan, Iran

[4 ]Assistant Professor of Orthopedics, Isfahan University of Medical Science, Isfahan, Iran

Author notes

Corresponding author: D. Tahririan Department of Pediatric Dentistry, Faculty of Dentistry, Isfahan University of Medical Sciences, Isfahan, Iran, dana_tahririan@ 123456yahoo.com

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Publisher ID: jod-11-361

PMC ID: 4290765

PubMed ID: 25628672

SO-VID: 19457a07-bc71-4634-86cd-231ffd57132d

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This is an open-access article distributed under the terms of the Creative Commons Attribution NonCommercial 3.0 License (CC BY-NC 3.0), which allows users to read, copy, distribute and make derivative works for non-commercial purposes from the material, as long as the author of the original work is cited properly.

Chondroectodermal Dysplasia: A Rare Syndrome

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Most cited references 12

Ellis-Van Creveld syndrome

Chondroectodermal dysplasia (Ellis van Creveld syndrome): a report of three cases with review of literature.

Ellis-van Creveld syndrome in an Indian child: a case report

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