GTR Home > Conditions/Phenotypes > Spondylocostal dysostosis 3

Disease characteristics

Excerpted from the GeneReview: Spondylocostal Dysostosis, Autosomal Recessive
Spondylocostal dysostosis (SCDO), defined radiographically as multiple segmentation defects of the vertebrae (M-SDV) in combination with abnormalities of the ribs, is characterized clinically by: a short trunk in proportion to height; short neck; and non-progressive mild scoliosis in most affected individuals, and occasionally, more significant scoliosis. Respiratory function in neonates may be compromised by reduced size of the thorax. By age two years lung growth may improve sufficiently to support relatively normal growth and development; however, even then life-threatening complications can occur, especially pulmonary hypertension in children with severely restricted lung capacity from birth. Males with SCDO appear to be at increased risk for inguinal hernia.

Available tests

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Associated genes

Clinical features

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  • Vertebral segmentation defect
  • Slender finger
  • Scoliosis
  • Supernumerary vertebral ossification centers

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