Spondylocostal Dysostosis 5; Scdo5

Clinical Features

Top most frequent phenotypes and symptoms related to Spondylocostal Dysostosis 5; Scdo5

  • Short stature
  • Scoliosis
  • Short neck
  • Severe short stature
  • Pectus carinatum
  • Abnormality of the ribs
  • Abnormal vertebral morphology
  • Hemivertebrae
  • Vertebral fusion
  • Syringomyelia

And another 6 symptoms. If you need more information about this disease we can help you.

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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.

Alternative names

Spondylocostal Dysostosis 5; Scdo5 Is also known as costovertebral segmentation anomalies, scoliosis, congenital, with or without rib anomalies, spondylocostal dysplasia, spondylothoracic dysostosis.

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 5; Scdo5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
HES7 - Spondylocostal dysostosis 4, autosomal recessive.

By Centre of Molecular Diseases (CMM) CHUV (Switzerland).

HES7
Specificity
100 %
Genes
34 %
HES7. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

HES7
Specificity
100 %
Genes
34 %
HES7, MESP2, LFNG, DLL3. NextGeneDx. Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

HES7, DLL3, MESP2, LFNG
Specificity
25 %
Genes
34 %
Spondylocostal dysostosis 4, AR (sequence analysis of HES7 gene).

By CGC Genetics (Portugal).

HES7
Specificity
100 %
Genes
34 %
Spondylocostal dysostosis (NGS panel of 6 genes).

By CGC Genetics (Portugal).

TBX6, HES7, RIPPLY2, DLL3, MESP2, LFNG
Specificity
34 %
Genes
67 %
Spondylocostal dysostosis (NGS panel of 6 genes).

By CGC Genetics (Portugal).

TBX6, HES7, RIPPLY2, DLL3, MESP2, LFNG
Specificity
34 %
Genes
67 %
HES7-Related Spondylocostal Dysostosis, Autosomal Recessive.

By Exeter Molecular Genetics Laboratory (United Kingdom).

HES7
Specificity
100 %
Genes
34 %
Spondylocostal Dysostosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

TBX6, HES7, DLL3, MESP2, LFNG
Specificity
40 %
Genes
67 %

You can get up to 24 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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