Spondylocostal Dysostosis 6, Autosomal Recessive; Scdo6

Clinical Features

Phenotypes and symptoms related to Spondylocostal Dysostosis 6, Autosomal Recessive; Scdo6

  • Scoliosis
  • Kyphosis
  • Hemivertebrae
  • Spinal canal stenosis
  • Thoracic scoliosis
  • Spinal cord compression
  • Butterfly vertebrae
  • Cervical kyphosis

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Spondylocostal Dysostosis 6, Autosomal Recessive; Scdo6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Klippel-Feil syndrome (NGS panel for 5 genes).

By CGC Genetics (Portugal).

MYO18B, RIPPLY2, GDF3, GDF6, MEOX1
Specificity
20 %
Genes
100 %
Spondylocostal dysostosis (NGS panel of 6 genes).

By CGC Genetics (Portugal).

TBX6, HES7, RIPPLY2, DLL3, MESP2, LFNG
Specificity
17 %
Genes
100 %
Spondylocostal dysostosis (NGS panel of 6 genes).

By CGC Genetics (Portugal).

TBX6, HES7, RIPPLY2, DLL3, MESP2, LFNG
Specificity
17 %
Genes
100 %
Klippel-Feil syndrome (NGS panel for 5 genes).

By CGC Genetics (Portugal).

MYO18B, RIPPLY2, GDF3, GDF6, MEOX1
Specificity
20 %
Genes
100 %
Spondylocostal dysostosis Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

TBX6, HES7, RIPPLY2, DLL3, MESP2, LFNG
Specificity
17 %
Genes
100 %
Spondylocostal dysostosis Comprehensive panel.

By Connective Tissue Gene Tests (United States).

TBX6, HES7, RIPPLY2, DLL3, MESP2, LFNG
Specificity
17 %
Genes
100 %
Spondylocostal dysostosis NGS panel.

By Connective Tissue Gene Tests (United States).

TBX6, HES7, RIPPLY2, DLL3, MESP2, LFNG
Specificity
17 %
Genes
100 %
Klippel-Feil syndrome Comprehensive panel.

By Connective Tissue Gene Tests (United States).

MYO18B, RIPPLY2, GDF3, GDF6, MEOX1
Specificity
20 %
Genes
100 %

You can get up to 5 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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