Ellis Van Creveld syndrome

Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.

Short ribs

Reduced rib length.


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PMID (PMCID)
26580685
 MIXED_SAMPLE Adult
Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome.
Aziz A, Raza SI, Ali S, Ahmad W.
Clin Dysmorphol. 2016;25(1):1-6.
Ellis-van Creveld syndrome (EVC) is a rare developmental disorder characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails, teeth, oral and cardiac abnormalities.
19915279
 FEMALE Child
Clinical manifestations of Ellis-van Creveld syndrome.
Vinay C, Reddy RS, Uloopi KS, Sekhar RC.
J Indian Soc Pedod Prev Dent. 2009;27(4):256-9.
Ellis-van Creveld syndrome (EVC) is a chondro-ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation and ectodermal and heart defects.
15844783
 MIXED_SAMPLE Child
Unusual pattern of inheritance and orodental changes in the Ellis-van Creveld syndrome.
Mostafa MI, Temtamy SA, el-Gammal MA, Mazen IM.
Genet Couns. 2005;16(1):75-83.
Ellis-van Creveld (EVC) syndrome (chondroectodermal dysplasia, mesoectodermal dysplasia, OMIM 225500) is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly and dysplastic nails and teeth.
10602104
 FEMALE Adult
Prenatal sonographic diagnosis of ellis-van creveld syndrome.
Tongsong T, Chanprapaph P.
J Clin Ultrasound. 2000;28(1):38-41.
Ellis-van Creveld syndrome (chondroectodermal dysplasia) is a rare autosomal recessive disorder characterized by a narrow thorax with short ribs, short extremities with polydactyly, and heart defects.
10602104
 FEMALE Adult
Prenatal sonographic diagnosis of ellis-van creveld syndrome.
Tongsong T, Chanprapaph P.
J Clin Ultrasound. 2000;28(1):38-41.
Ellis-van Creveld syndrome (chondroectodermal dysplasia) is a rare autosomal recessive disorder characterized by a narrow thorax with short ribs, short extremities with polydactyly, and heart defects.