Spondyloepiphyseal Dysplasia

  • Harold Chen
Living reference work entry


Spondyloepiphyseal dysplasia (SED) refers to a group of disorders with primary involvement of the vertebrae and epiphyseal centers resulting in a short-trunk disproportionate dwarfism. Two major types (congenita and tarda) will be discussed here.


Femoral Head Vertebral Body Posterior Spinal Fusion Autosomal Recessive Form Autosomal Dominant Form 
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  1. Augenstein, K. B., Ward, M. J., & Nelson, V. S. (1996). Spondyloepiphyseal dysplasia congenita with ventilator dependence: Two case reports. Archives of Physical Medicine and Rehabilitation, 77, 1201–1204.CrossRefPubMedGoogle Scholar
  2. Bannerman, R. M., Ingall, G. B., & Mohn, J. F. (1971). X-linked spondyloepiphyseal dysplasia tarda: Clinical and linkage data. Journal of Medical Genetics, 8, 291–301.PubMedCentralCrossRefPubMedGoogle Scholar
  3. Chan, D., Taylor, T. K. F., & Cole, W. G. (1993). Characterization of an arginine 789 to cysteine substitution in alpha1(II) collagen chains of a patient with spondyloepiphyseal dysplasia. The Journal of Biological Chemistry, 268, 15238–15245.PubMedGoogle Scholar
  4. Chan, D., Rogers, J. F., Bateman, J. F., et al. (1995). Recurrent substitutions of arginine 789 by cysteine in pro-alpha 1 (II) collagen chains produce spondyloepiphyseal dysplasia congenita. The Journal of Rheumatology. Supplement, 43, 37–38.PubMedGoogle Scholar
  5. Choi, M. Y., Chan, C. C. Y., Chan, D., et al. (2009). Biochemical consequences of sedlin mutations that cause spondyloepiphyseal dysplasia tarda. Biochemical Journal, 423, 323–342.CrossRefGoogle Scholar
  6. Christie, P. T., Curley, A., Nesbit, M. A., et al. (2001). Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda. Journal of Clinical Endocrinology and Metabolism, 86, 3233–3236.PubMedGoogle Scholar
  7. Cole, W. G., Hall, R. K., & Rogers, J. G. (1993). The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagen. Journal of Medical Genetics, 30, 27–35.PubMedCentralCrossRefPubMedGoogle Scholar
  8. Dahiya, R., Cleveland, S., & Megerian, C. A. (2000). Spondyloepiphyseal dysplasia congenita associated with conductive hearing loss. Ear, Nose, & Throat Journal, 79, 178–182.Google Scholar
  9. Diamond, L. S. (1970). A family study of spondyloepiphyseal dysplasia. Journal of Bone Joint and Surgery (America), 52, 1587–1594.Google Scholar
  10. Gedeon, A. K., Colley, A., Jamieson, R., et al. (1999). Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda. Nature Genetics, 22, 400–404.CrossRefPubMedGoogle Scholar
  11. Gedeon, A. K., Tiller, G. E., Le Merrer, M., et al. (2001). The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. American Journal of Human Genetics, 68, 1386–1397.PubMedCentralCrossRefPubMedGoogle Scholar
  12. Grunebaum, E., Arpaia, E., MacKenzie, J. J., et al. (2001). A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree. Journal of Medical Genetics, 38, 409–411.PubMedCentralCrossRefPubMedGoogle Scholar
  13. Harding, C. O., Green, C. G., Perloff, W. H., et al. (1990). Respiratory complications in children with spondyloepiphyseal dysplasia congenita. Pediatric Pulmonology, 9, 49–54.CrossRefPubMedGoogle Scholar
  14. Heuertz, S., Smahi, A., Wilkie, A. O., et al. (1995). Genetic mapping of Xp22.12-p22.31, with a refined localization for spondyloepiphyseal dysplasia (SEDL). Human Genetics, 96, 407–410.CrossRefPubMedGoogle Scholar
  15. James, P. A., Shaw, J., du Sart, D., et al. (2003). Molecular diagnosis in a pregnancy at risk for both spondyloepiphyseal dysplasia congenita and achondroplasia. Prenatal Diagnosis, 23, 861–863.CrossRefPubMedGoogle Scholar
  16. Kozlowski, K., Masel, J., & Nolte, K. (1977). Dysplasia spondylo-epiphysealis congenita Springer-Wiedemann. A critical analysis. Australasian Radiology, 2, 260–280.CrossRefGoogle Scholar
  17. Langer, L. O., Jr. (1964). Spondyloepiphyseal dysplasia tarda: Hereditary chondrodysplasia with characteristic vertebral configuration in the adult. Radiology, 82, 833–839.CrossRefPubMedGoogle Scholar
  18. Lee, B., Vissing, H., Ramirez, F., et al. (1989). Identification of the molecular defect in a family with spondyloepiphyseal dysplasia. Science, 244, 978–980.CrossRefPubMedGoogle Scholar
  19. MacKenzie, J. J., Fitzpatrick, J., Babyn, P., et al. (1996). X linked spondyloepiphyseal dysplasia: A clinical, radiological, and molecular study of a large kindred. Journal of Medical Genetics, 33, 823–828.PubMedCentralCrossRefPubMedGoogle Scholar
  20. Macpherson, R. I., & Wood, B. P. (1980). Spondyloepiphyseal dysplasia congenita. A cause of lethal neonatal dwarfism. Pediatric Radiology, 9, 217–224.CrossRefPubMedGoogle Scholar
  21. Naumoff, P. (1977). Thoracic dysplasia in spondyloepiphyseal dysplasia congenita. American Journal of Diseases of Children, 131, 653–654.PubMedGoogle Scholar
  22. Parikh, S. N. (2013). Spondyloepiphyseal dysplasia. eMedicine from WebMD. Updated November 25, 2013.
  23. Reardon, W., Hall, C. M., Shaw, D. G., et al. (1994). New autosomal dominant form of spondyloepiphyseal dysplasia presenting with atlanto-axial instability. American Journal of Medical Genetics, 52, 432–437.CrossRefPubMedGoogle Scholar
  24. Savarirayan, R., Thompson, E., & Gecz, J. (2003). Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400). European Journal of Human Genetics, 11, 639–642.CrossRefPubMedGoogle Scholar
  25. Spranger, J. W., & Langer, L. O., Jr. (1970). Spondyloepiphyseal dysplasia congenita. Radiology, 94, 313–322.CrossRefPubMedGoogle Scholar
  26. Spranger, J. W., & Langer, L. O., Jr. (1974). Spondyloepiphyseal dysplasias. Birth Defects Original Article Series, X(9), 19–61.Google Scholar
  27. Tiller, G. E., & Hannig, V. L. (2011). X-linked Spondyloepiphyseal dysplasia tarda. GeneReviews. Retrieved 15 Feb 2011.
  28. Tiller, G. E., Weis, M. A., Polumbo, P. A., et al. (1995). An RNA-splicing mutation (G + 5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita. American Journal of Human Genetics, 56, 388–395.PubMedCentralPubMedGoogle Scholar
  29. Turner, L. M., & Steffensen, T. S. (2010). Spondyloepiphyseal dysplasia congenita. Fetal and Pediatric Pathology, 29, 57–62.CrossRefPubMedGoogle Scholar
  30. Whyte, M. P., Gottesman, G. S., Eddy, M. C., et al. (1999). X-linked recessive spondyloepiphyseal dysplasia tarda. Clinical and radiographic evolution in a 6-generation kindred and review of the literature. Medicine (Baltimore), 78, 9–25.CrossRefGoogle Scholar
  31. Yang, S. S., Chen, H., Williams, P., et al. (1980). Spondyloepiphyseal dysplasia congenita. A comparative study of chondrocytic inclusions. Archives of Pathology and Laboratory Medicine, 104, 208–211.PubMedGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  1. 1.Medical Genetics, Shriners Hospitals for ChildrenShreveportUSA
  2. 2.Perinatal and Clinical Genetics, Department of PediatricsLSU Health Sciences CenterShreveportUSA

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