Ellis-Van Creveld Syndrome

Common Name(s)

Ellis-Van Creveld Syndrome, Chondroectodermal dysplasia, Ellis-Van Creveld Syndrome (EVC)

Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly, and dysplastic nails and teeth. Congenital cardiac defects, most commonly a defect of primary atrial septation producing a common atrium, occur in 60% of affected individuals (summary by {33:Ruiz-Perez et al., 2000}). The clinical features of the Ellis-van Creveld syndrome appear to be identical regardless of whether the disorder is caused by mutation in the EVC gene ({604831}) or in the EVC2 gene ({607261}) ({34:Ruiz-Perez et al., 2003}, {16:Galdzicka et al., 2002}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ellis-Van Creveld Syndrome" for support, advocacy or research.

National Foundation for Ectodermal Dysplasias

The National Foundation for Ectodermal Dysplasias’ mission is to empower and connect people touched by ectodermal dysplasias through education, support, and research.

http://www.nfed.org

Last Updated: 2 Jan 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ellis-Van Creveld Syndrome" for support, advocacy or research.

National Foundation for Ectodermal Dysplasias

The National Foundation for Ectodermal Dysplasias’ mission is to empower and connect people touched by ectodermal dysplasias through education, support, and research.

http://www.nfed.org

Last Updated: 2 Jan 2013

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Ellis-Van Creveld Syndrome" returned 30 free, full-text research articles on human participants. First 3 results:

Late survival in Ellis-van Creveld syndrome - a case report.
 

Author(s): Trinath Mishra, Satya N Routray, Biswajit Das

Journal: Indian Heart J. ;64(4):408-11.

 

Ellis-van Creveld syndrome (EVC) is an autosomal recessive disorder characterized by chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac anomalies. Acromelic shortening of upper and lower limbs, genu valgum, multiple frenula, deformed teeth, short ribs and narrow thorax ...

Last Updated: 29 Aug 2012

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Type 1 diabetes in a patient with Ellis-van Creveld syndrome.
 

Author(s): Carla Graziadio, Pricila Bernardi, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen, Giorgio Adriano Paskulin

Journal: Sao Paulo Med J. 2012 ;130(1):53-6.

 

Ellis-van Creveld (EVC) syndrome is a rare autosomal recessive disease characterized by disproportionate short stature, narrow thorax, postaxial polydactyly, nail and tooth abnormalities and congenital heart disease.

Last Updated: 20 Feb 2012

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Ellis van Creveld syndrome--a report of two siblings.
 

Author(s): Karthik Hegde, Reema Manoj Puthran, Gopakumar Nair, Preeti P Nair

Journal:

 

Chondro-ectodermal dysplasia is a rare autosomal recessive disorder which affects the ectodermal, mesodermal and endodermal derivatives. There are numerous conditions reported under this title which include Ellis van Creveld syndrome. The oral findings include multiple gingivolabial ...

Last Updated: 7 Jun 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Ellis-Van Creveld Syndrome" returned 3 free, full-text review articles on human participants. First 3 results:

Ellis-van Creveld syndrome. Case report and literature review.
 

Author(s): Daniela Alves-Pereira, Leonardo Berini-Aytés, Cosme Gay-Escoda

Journal:

 

Ellis-van Creveld syndrome is a genetic disorder that was first described by Richard Ellis and Simon van Creveld in 1940. The four principal characteristics are chondrodysplasia, polydactyly, ectodermal dysplasia and congenital heart defects. The orofacial manifestations include multiple ...

Last Updated: 29 Jun 2009

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Ellis-van Creveld syndrome.
 

Author(s): Geneviève Baujat, Martine Le Merrer

Journal:

 

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 ...

Last Updated: 14 Jun 2007

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

Author(s): K Kurian, S Shanmugam, T Harsh Vardah, Siddharth Gupta

Journal: Indian J Dent Res. ;18(1):31-4.

 

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 ...

Last Updated: 9 Mar 2007

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.