Ellis-Van Creveld Syndrome (Chondroectodermal Dysplasia)

Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, and defect of the cardiac septum. (Dorland, 27th ed)

Also Known As:

Chondroectodermal Dysplasia; Syndrome, Ellis-Van Creveld; Ellis-Van Creveld Dysplasia; Mesoectodermal Dysplasia; Chondroectodermal Dysplasias; Dysplasia, Chondroectodermal; Dysplasia, Ellis-Van Creveld; Dysplasia, Mesoectodermal; Ellis Van Creveld Dysplasia; Ellis Van Creveld Syndrome; Mesoectodermal Dysplasias

Networked: 27 relevant articles (0 outcomes, 2 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Thanatophoric Dysplasia (Dwarfism, Thanatophoric)
2.	Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos)
3.	Chondrodysplasia Punctata (Stippled Epiphyses)
4.	Congenital Abnormalities (Deformity)
5.	Dyssegmental dysplasia

Experts

1.	Goodship, Judith A: 4 articles (01/2012 - 08/2007)
2.	Ruiz-Perez, Victor L: 4 articles (01/2012 - 08/2007)
3.	Calatrava, Lucía: 2 articles (01/2022 - 01/2020)
4.	Gratal, Paula: 2 articles (01/2022 - 01/2020)
5.	Herrero-Beaumont, Gabriel: 2 articles (01/2022 - 01/2020)
6.	Lamuedra, Ana: 2 articles (01/2022 - 01/2020)
7.	Largo, Raquel: 2 articles (01/2022 - 01/2020)
8.	Ruiz-Perez, Víctor Luis: 2 articles (01/2022 - 01/2020)
9.	Chinipardaz, Z: 1 article (01/2022)
10.	Graves, D T: 1 article (01/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Ellis-Van Creveld Syndrome:

1.	Proteoglycans (Proteoglycan)IBA 08/01/1994 - "Single-strand conformation polymorphism analysis of these proteoglycan cDNAs was also applied to study patients exhibiting a variety of connective tissue pathologies, including chondrodysplasia punctata, Desbuquois syndrome, Dyggve-Melchior-Clausen syndrome, dyssegmental dysplasia, Ehlers-Danlos syndrome types I and III, Ellis van Creveld syndrome and thanatophoric dysplasia, though no additional sequence variations were detected."
2.	A 19IBA 06/01/2012 - "This study reports a ten year follow-up after a primarily failed operative therapy of knee deformity due to incomplete correction and the surgical technique utilized to correct the residual external torsional deformity and dislocation of the patella in a 19 year old girl who presented with the typical clinical features of Ellis-van Creveld Syndrome."
3.	Proteins (Proteins, Gene)FDA Link 11/01/2012 - "Here, we provide evidence that two ciliary proteins, Evc and Evc2, the products of human disease genes responsible for the Ellis-van Creveld syndrome, act downstream of Smo to transduce the Hh signal. " 01/01/2012 - "Ellis-van Creveld syndrome protein homolog (Evc) was previously shown to mediate expression of Indian hedgehog (Ihh) downstream targets in chondrocytes. " 12/01/2009 - "Using murine versions of EVC2 exon 22 mutations we demonstrate that the expression of a Weyer variant, but not the expression of a truncated protein that mimics an Ellis-van Creveld syndrome mutation, impairs Hedgehog signal transduction in NIH 3T3 cells in keeping with its dominant effect." 01/01/2022 - "Since Ellis-van Creveld syndrome protein (Evc) deletion is expected to hamper Hh target gene expression we hypothesized that it would also prevent OA progression avoiding chondrocyte hypertrophy. " 03/01/2013 - "The clinical features of individuals with Ellis-van Creveld syndrome include various dental anomalies, and we show here that absence of the cilial protein Evc in mice causes various hypo- and hyperplasia defects during molar development. "
4.	Anesthetics (Anesthetic Agents)IBA 07/01/2023 - "Ellis van creveld syndrome: Cardiac anomalies and anesthetic implications." 12/01/2008 - "Anesthetic implications of Ellis-van Creveld syndrome."
5.	Protein Phosphatase 2 (Protein Phosphatase 2A)IBA 10/29/1999 - "In the course of our analysis of genomic sequence from the human chromosome 4p16.1 region harboring both the Wolfram and Ellis van Creveld syndrome genes we have identified a sequence with high homology (98% at the amino acid level) to the rat cDNA coding for the protein phosphatase 2A BRgamma (PP2ABRgamma) regulatory subunit. "
6.	Semaphorin-3AIBA 11/01/2004 - "In this report, we present the haplotype and linkage disequilibrium (LD) pattern in the Collapsin Response Mediator Protein 1 (CRMP1) and Ellis-van Creveld syndrome (EVC) gene region. "
7.	Complementary DNA (cDNA)IBA 10/29/1999 - "In the course of our analysis of genomic sequence from the human chromosome 4p16.1 region harboring both the Wolfram and Ellis van Creveld syndrome genes we have identified a sequence with high homology (98% at the amino acid level) to the rat cDNA coding for the protein phosphatase 2A BRgamma (PP2ABRgamma) regulatory subunit. "
8.	TungstenIBA 10/29/1999 - "In the course of our analysis of genomic sequence from the human chromosome 4p16.1 region harboring both the Wolfram and Ellis van Creveld syndrome genes we have identified a sequence with high homology (98% at the amino acid level) to the rat cDNA coding for the protein phosphatase 2A BRgamma (PP2ABRgamma) regulatory subunit. "
9.	Tamoxifen FDA LinkGeneric 01/01/2020 - "Knee OA was induced by destabilization of the medial meniscus (DMM) in wild-type (WT) adult mice, and in Tamoxifen-inducible Ellis-van-Creveld syndrome protein (Evc) knockouts (EvccKO), used as a model of GP disorganization due to Hedgehog signalling disruption. "
10.	Growth Hormone (Somatotropin)IBA 09/15/2007 - "Little is known on growth, growth hormone (GH) levels and GH treatment in patients with Ellis-van Creveld syndrome (EvC). " 09/15/2007 - "Growth hormone analysis and treatment in Ellis-van Creveld syndrome."

Therapies and Procedures

1.	Therapeutics 06/01/2012 - "This study reports a ten year follow-up after a primarily failed operative therapy of knee deformity due to incomplete correction and the surgical technique utilized to correct the residual external torsional deformity and dislocation of the patella in a 19 year old girl who presented with the typical clinical features of Ellis-van Creveld Syndrome."
2.	Catheters 08/01/2009 - "A rare problem with an epidural catheter in a patient with Ellis-van Creveld syndrome."
3.	Liver Transplantation 06/01/2002 - "Liver transplantation in Ellis-van Creveld syndrome: a case report."
4.	Osteotomy 10/01/1999 - "Six knees in three patients with Ellis-van Creveld syndrome were treated with lateral soft tissue release and corrective osteotomy of the tibia at 10 years of age on average. "
5.	Anesthesia 10/01/2010 - "[Anesthesia in a patient with Ellis-van Creveld syndrome]."