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MeSH Review

Ellis-Van Creveld Syndrome

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Disease relevance of Ellis-Van Creveld Syndrome

  • 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 [1].

High impact information on Ellis-Van Creveld Syndrome


Biological context of Ellis-Van Creveld Syndrome


Anatomical context of Ellis-Van Creveld Syndrome


  1. Unusual pattern of inheritance and orodental changes in the Ellis-van Creveld syndrome. Mostafa, M.I., Temtamy, S.A., el-Gammal, M.A., Mazen, I.M. Genetic counseling (Geneva, Switzerland) (2005) [Pubmed]
  2. Polycarpaly and other abnormalities of the wrist in chondroectodermal dysplasia: the Ellis-van Creveld syndrome. Taylor, G.A., Jordan, C.E., Dorst, S.K., Dorst, J.P. Radiology. (1984) [Pubmed]
  3. Ellis van Creveld syndrome (chondroectodermal dysplasia, MIM 22550) in three siblings from a non-consanguineous mating. George, E., DeSilva, S., Lieber, E., Raziuddin, K., Gudavalli, M. Journal of perinatal medicine. (2000) [Pubmed]
  4. Comparative histopathology of the growth cartilage in short-rib polydactyly syndromes type I and type III and in chondroectodermal dysplasia. Erzen, M., Stanescu, R., Stanescu, V., Maroteaux, P. Ann. Genet. (1988) [Pubmed]
  5. Ellis-van Creveld syndrome. An inbred kindred with five cases. Waldrigues, A., Grohmann, L.C., Takahashi, T., Reis, H.M. Revista brasileira de pesquisas médicas e biológicas. (1977) [Pubmed]
  6. First trimester prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with ultrasound. Dugoff, L., Thieme, G., Hobbins, J.C. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. (2001) [Pubmed]
  7. Skeletal histopathology in fetuses with chondroectodermal dysplasia (Ellis-van Creveld syndrome). Qureshi, F., Jacques, S.M., Evans, M.I., Johnson, M.P., Isada, N.B., Yang, S.S. Am. J. Med. Genet. (1993) [Pubmed]
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