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Spine
Diagnosis
Congenital and Genetic Disorders
Congenital
Genetic Disorders
Spondyloepiphyseal Dysplasia
Spondyloepiphyseal Dysplasia
Kevin R. Moore, MD; Jeffrey S. Ross, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Abbreviations

                • Spondyloepiphyseal dysplasia (SED)

              • Definitions

                • Group of generalized skeletal dysplasias primarily involving vertebrae and proximal epiphyseal centers
                  • Affected patients demonstrate short trunk, neck, and limbs with normal hand and foot size
                • Classified as short-trunk dwarfing syndrome (trunk involvement > limbs)
                • 2 major SED types primarily seen: SED congenita and SED tarda
                  • Multiple rare uncommon subtypes also reported

              IMAGING

              • General Features

                • Imaging Recommendations

                  • Radiographic Findings

                    • CT Findings

                      • MR Findings

                        DIFFERENTIAL DIAGNOSIS

                          PATHOLOGY

                          • General Features

                            • Staging, Grading, & Classification

                              CLINICAL ISSUES

                              • Presentation

                                • Demographics

                                  • Natural History & Prognosis

                                    • Treatment

                                      DIAGNOSTIC CHECKLIST

                                      • Consider

                                        Selected References

                                        1. Al Kaissi A et al: The managment of cervical spine abnormalities in children with spondyloepiphyseal dysplasia congenita: observational study. Medicine (Baltimore). 98(1):e13780, 2019
                                        2. Serhan Er M et al: Upper cervical fusion in children with spondyloepiphyseal dysplasia congenita. J Pediatr Orthop. 37(7):466-72, 2017
                                        3. Terhal PA et al: A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. Am J Med Genet A. 167(3):461-75, 2015
                                        4. Veeravagu A et al: Neurosurgical interventions for spondyloepiphyseal dysplasia congenita: clinical presentation and assessment of the literature. World Neurosurg. 80(3-4):437.e1-8, 2013
                                        5. Cassart M: Suspected fetal skeletal malformations or bone diseases: how to explore. Pediatr Radiol. 40(6):1046-51, 2010
                                        6. Nishimura G et al: Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. Am J Med Genet A. 152A(6):1443-9, 2010
                                        7. Sasaki-Adams DM et al: Level of the conus in pediatric patients with skeletal dysplasia. J Neurosurg Pediatr. 5(5):455-9, 2010
                                        8. Turner LM et al: Spondyloepiphyseal dysplasia congenita. Fetal Pediatr Pathol. 29(1):57-62, 2010
                                        9. Bal S et al: Spondyloepiphyseal dysplasia tarda: four cases from two families. Rheumatol Int. 29(6):699-702, 2009
                                        10. Carter EM et al: Genetic and orthopedic aspects of collagen disorders. Curr Opin Pediatr. 21(1):46-54, 2009
                                        11. Dahlqvist J et al: Multiple epiphyseal dysplasia. Acta Orthop. 80(6):711-5, 2009
                                        12. Kim OH et al: A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients. Skeletal Radiol. 38(8):803-11, 2009
                                        13. Xia XY et al: A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree. Clin Chim Acta. 410(1-2):39-42, 2009
                                        14. Cui YX et al: Rapid molecular prenatal diagnosis of spondyloepiphyseal dysplasia congenita by PCR-SSP assay. Genet Test. 12(4):533-6, 2008
                                        15. Klimo P Jr et al: Congenital anomalies of the cervical spine. Neurosurg Clin N Am. 18(3):463-78, 2007
                                        16. Di Motta D et al: Spondyloepiphyseal dysplasia tarda: description of one case. Chir Organi Mov. 90(3):309-13, 2005
                                        17. Morita M et al: Thoracolumbar kyphosing scoliosis associated with spondyloepiphyseal dysplasia congenita: a case report. Spine J. 5(2):217-20, 2005
                                        18. Miyoshi K et al: Surgical treatment for atlantoaxial subluxation with myelopathy in spondyloepiphyseal dysplasia congenita. Spine (Phila Pa 1976). 29(21):E488-91, 2004
                                        Related Anatomy
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                                        Related Differential Diagnoses
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                                        References
                                        Tables

                                        Tables

                                        KEY FACTS

                                        • Terminology

                                          • Imaging

                                            • Top Differential Diagnoses

                                              • Pathology

                                                • Clinical Issues

                                                  • Diagnostic Checklist

                                                    TERMINOLOGY

                                                    • Abbreviations

                                                      • Spondyloepiphyseal dysplasia (SED)

                                                    • Definitions

                                                      • Group of generalized skeletal dysplasias primarily involving vertebrae and proximal epiphyseal centers
                                                        • Affected patients demonstrate short trunk, neck, and limbs with normal hand and foot size
                                                      • Classified as short-trunk dwarfing syndrome (trunk involvement > limbs)
                                                      • 2 major SED types primarily seen: SED congenita and SED tarda
                                                        • Multiple rare uncommon subtypes also reported

                                                    IMAGING

                                                    • General Features

                                                      • Imaging Recommendations

                                                        • Radiographic Findings

                                                          • CT Findings

                                                            • MR Findings

                                                              DIFFERENTIAL DIAGNOSIS

                                                                PATHOLOGY

                                                                • General Features

                                                                  • Staging, Grading, & Classification

                                                                    CLINICAL ISSUES

                                                                    • Presentation

                                                                      • Demographics

                                                                        • Natural History & Prognosis

                                                                          • Treatment

                                                                            DIAGNOSTIC CHECKLIST

                                                                            • Consider

                                                                              Selected References

                                                                              1. Al Kaissi A et al: The managment of cervical spine abnormalities in children with spondyloepiphyseal dysplasia congenita: observational study. Medicine (Baltimore). 98(1):e13780, 2019
                                                                              2. Serhan Er M et al: Upper cervical fusion in children with spondyloepiphyseal dysplasia congenita. J Pediatr Orthop. 37(7):466-72, 2017
                                                                              3. Terhal PA et al: A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. Am J Med Genet A. 167(3):461-75, 2015
                                                                              4. Veeravagu A et al: Neurosurgical interventions for spondyloepiphyseal dysplasia congenita: clinical presentation and assessment of the literature. World Neurosurg. 80(3-4):437.e1-8, 2013
                                                                              5. Cassart M: Suspected fetal skeletal malformations or bone diseases: how to explore. Pediatr Radiol. 40(6):1046-51, 2010
                                                                              6. Nishimura G et al: Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. Am J Med Genet A. 152A(6):1443-9, 2010
                                                                              7. Sasaki-Adams DM et al: Level of the conus in pediatric patients with skeletal dysplasia. J Neurosurg Pediatr. 5(5):455-9, 2010
                                                                              8. Turner LM et al: Spondyloepiphyseal dysplasia congenita. Fetal Pediatr Pathol. 29(1):57-62, 2010
                                                                              9. Bal S et al: Spondyloepiphyseal dysplasia tarda: four cases from two families. Rheumatol Int. 29(6):699-702, 2009
                                                                              10. Carter EM et al: Genetic and orthopedic aspects of collagen disorders. Curr Opin Pediatr. 21(1):46-54, 2009
                                                                              11. Dahlqvist J et al: Multiple epiphyseal dysplasia. Acta Orthop. 80(6):711-5, 2009
                                                                              12. Kim OH et al: A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients. Skeletal Radiol. 38(8):803-11, 2009
                                                                              13. Xia XY et al: A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree. Clin Chim Acta. 410(1-2):39-42, 2009
                                                                              14. Cui YX et al: Rapid molecular prenatal diagnosis of spondyloepiphyseal dysplasia congenita by PCR-SSP assay. Genet Test. 12(4):533-6, 2008
                                                                              15. Klimo P Jr et al: Congenital anomalies of the cervical spine. Neurosurg Clin N Am. 18(3):463-78, 2007
                                                                              16. Di Motta D et al: Spondyloepiphyseal dysplasia tarda: description of one case. Chir Organi Mov. 90(3):309-13, 2005
                                                                              17. Morita M et al: Thoracolumbar kyphosing scoliosis associated with spondyloepiphyseal dysplasia congenita: a case report. Spine J. 5(2):217-20, 2005
                                                                              18. Miyoshi K et al: Surgical treatment for atlantoaxial subluxation with myelopathy in spondyloepiphyseal dysplasia congenita. Spine (Phila Pa 1976). 29(21):E488-91, 2004