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GENATLAS PHENOTYPE
last update : 10-10-2016
Symbol SCDO2
Location 15q26.1
Name spondylocostal dysostosis, type 2
Other name(s)
  • Jarcho-Levin Syndrome
  • spondylothoracic dysostosis
  • Corresponding gene MESP2
    Other symbol(s) STD, JLS
    Main clinical features
  • general vertebral segmentation defect
  • abnormal vertebral segmentation and defects affecting spine formation, with complete bilateral fusion of the ribs at the costovertebral junction producing a "crab-like" configuration of the thorax
  • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    Type disease
    Gene product
    Name mesoderm posterior 2
    Remark(s)