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Autosomal dominant spondylocostal dysostosis

Disease definition

A very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.

ORPHA:1797

Classification level: Disorder
  • Synonym(s):
    • Autosomal dominant spondylocostal dysplasia
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: No data available
  • ICD-10: Q76.4
  • ICD-11: LD24.H
  • OMIM: 122600
  • UMLS: C4274761
  • MeSH: -
  • GARD: 12806
  • MedDRA: -

  A summary on this disease is available in Deutsch (2012) Español (2012) Italiano (2012) Nederlands (2012)

Additional information

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