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
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
Serhan Er M et al: Upper cervical fusion in children with spondyloepiphyseal dysplasia congenita. J Pediatr Orthop. 37(7):466-72, 2017
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
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
Cassart M: Suspected fetal skeletal malformations or bone diseases: how to explore. Pediatr Radiol. 40(6):1046-51, 2010
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
Sasaki-Adams DM et al: Level of the conus in pediatric patients with skeletal dysplasia. J Neurosurg Pediatr. 5(5):455-9, 2010
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
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
Cui YX et al: Rapid molecular prenatal diagnosis of spondyloepiphyseal dysplasia congenita by PCR-SSP assay. Genet Test. 12(4):533-6, 2008
Klimo P Jr et al: Congenital anomalies of the cervical spine. Neurosurg Clin N Am. 18(3):463-78, 2007
Di Motta D et al: Spondyloepiphyseal dysplasia tarda: description of one case. Chir Organi Mov. 90(3):309-13, 2005
Morita M et al: Thoracolumbar kyphosing scoliosis associated with spondyloepiphyseal dysplasia congenita: a case report. Spine J. 5(2):217-20, 2005
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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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
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
Serhan Er M et al: Upper cervical fusion in children with spondyloepiphyseal dysplasia congenita. J Pediatr Orthop. 37(7):466-72, 2017
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
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
Cassart M: Suspected fetal skeletal malformations or bone diseases: how to explore. Pediatr Radiol. 40(6):1046-51, 2010
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
Sasaki-Adams DM et al: Level of the conus in pediatric patients with skeletal dysplasia. J Neurosurg Pediatr. 5(5):455-9, 2010
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
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
Cui YX et al: Rapid molecular prenatal diagnosis of spondyloepiphyseal dysplasia congenita by PCR-SSP assay. Genet Test. 12(4):533-6, 2008
Klimo P Jr et al: Congenital anomalies of the cervical spine. Neurosurg Clin N Am. 18(3):463-78, 2007
Di Motta D et al: Spondyloepiphyseal dysplasia tarda: description of one case. Chir Organi Mov. 90(3):309-13, 2005
Morita M et al: Thoracolumbar kyphosing scoliosis associated with spondyloepiphyseal dysplasia congenita: a case report. Spine J. 5(2):217-20, 2005
Miyoshi K et al: Surgical treatment for atlantoaxial subluxation with myelopathy in spondyloepiphyseal dysplasia congenita. Spine (Phila Pa 1976). 29(21):E488-91, 2004
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