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GENATLAS PHENOTYPE
last update : 10-10-2016
Symbol SCDO4
Location 17p13.1
Name spondylocostal dysostosis, type 4
Corresponding gene HES7
Main clinical features
  • general vertebral segmentation defect, presence of extensive hemivertebrae, truncal shortening and abnormally aligned ribs
  • 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
    Remark(s)