Spondylocostal Dysostosis 3, Autosomal Recessive; Scdo3

Clinical Features

Phenotypes and symptoms related to Spondylocostal Dysostosis 3, Autosomal Recessive; Scdo3

  • Scoliosis
  • Camptodactyly
  • Arachnodactyly
  • Abnormal vertebral morphology
  • Vertebral segmentation defect
  • Slender finger
  • Supernumerary vertebral ossification centers

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.


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Spondylocostal Dysostosis 3, Autosomal Recessive; Scdo3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
LFNG - Spondylocostal dysostosis 3.

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

LFNG
Specificity
100 %
Genes
100 %
LFNG. Complete sequencing.

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

LFNG
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 type 3 AR (sequence analysis of LFNG gene).

By CGC Genetics (Portugal).

LFNG
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 %
LFNG-Related Spondylocostal Dysostosis, Autosomal Recessive.

By Exeter Molecular Genetics Laboratory (United Kingdom).

LFNG
Specificity
100 %
Genes
100 %
Spondylocostal Dysostosis via LFNG Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

LFNG
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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