Spondylocostal Dysostosis 5; Scdo5

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Spondylocostal Dysostosis 5; Scdo5

HES7
TBX6
CDIPT

View recommended genes panels

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 %

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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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