Spondylocostal Dysostosis 4, Autosomal Recessive; Scdo4

Clinical Features

Top most frequent phenotypes and symptoms related to Spondylocostal Dysostosis 4, Autosomal Recessive; Scdo4

  • Short stature
  • Hydrocephalus
  • Pectus excavatum
  • Talipes
  • Situs inversus totalis
  • Spina bifida
  • Hemivertebrae
  • Spina bifida occulta
  • Dextrocardia
  • Short thorax

And another 10 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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 4, Autosomal Recessive; Scdo4 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
100 %
HES7. Complete sequencing.

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

HES7
Specificity
100 %
Genes
100 %
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
100 %
Spondylocostal dysostosis 4, AR (sequence analysis of HES7 gene).

By CGC Genetics (Portugal).

HES7
Specificity
100 %
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 %
HES7-Related Spondylocostal Dysostosis, Autosomal Recessive.

By Exeter Molecular Genetics Laboratory (United Kingdom).

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

By PreventionGenetics PreventionGenetics (United States).

TBX6, HES7, DLL3, MESP2, LFNG
Specificity
20 %
Genes
100 %

You can get up to 16 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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