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 {34: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}) ({35:Ruiz-Perez et al., 2003}, {17: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.

Last Updated: 12 Feb 2018

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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: 12 Feb 2018

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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 42 free, full-text research articles on human participants. First 3 results:

Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.
 

Author(s): Muhammad Umair, Heide Seidel, Ishtiaq Ahmed, Asmat Ullah, Tobias B Haack, Bader Alhaddad, Abid Jan, Afzal Rafique, Tim M Strom, Farooq Ahmad, Thomas Meitinger, Wasim Ahmad

Journal: J. Genet.. 2017 Dec;96(6):1005-1014.

 

Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia primarily characterized by the features such as disproportionate dwarfism, short ribs, short limbs, dysplastic nails, cardiovascular malformations, post-axial polydactyly (PAP) (bilateral) of hands and feet. EVC/EVC2 ...

Last Updated: 31 Dec 1969

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Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome.
 

Author(s): Marisol Ibarra-Ramirez, Luis Daniel Campos-Acevedo, Jose Lugo-Trampe, Laura E Martínez-Garza, Víctor Martinez-Glez, María Valencia-Benitez, Pablo Lapunzina, Víctor Ruiz-Peréz

Journal:

 

BACKGROUND Ellis-van Creveld syndrome is an autosomal recessive chondro-ectodermal dysplasia characterized by disproportionate short stature, limb shortening, narrow chest, postaxial polydactyly and dysplastic nails and teeth. In addition, 60% of cases present congenital heart defects. ...

Last Updated: 31 Dec 1969

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Prenatal Diagnosis of Ellis-van Creveld Syndrome by Targeted Sequencing.
 

Author(s): Xiao-Yan Hao, Chun-Na Fan, Yi-Hua He, Jing-Lan Liu, Shu-Ping Ge

Journal: Chin. Med. J.. 2016 Aug;129(15):1882-3.

 

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.