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.
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 |
---|
![]() By Centre of Molecular Diseases (CMM) CHUV (Switzerland).
HES7
Specificity
100 %
Genes
34 % |
![]() By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
HES7
Specificity
100 %
Genes
34 % |
![]() By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
HES7, DLL3, MESP2, LFNG
Specificity
25 %
Genes
34 % |
![]() By CGC Genetics (Portugal).
HES7
Specificity
100 %
Genes
34 % |
![]() By CGC Genetics (Portugal).
TBX6, HES7, RIPPLY2, DLL3, MESP2, LFNG
Specificity
34 %
Genes
67 % |
![]() By CGC Genetics (Portugal).
TBX6, HES7, RIPPLY2, DLL3, MESP2, LFNG
Specificity
34 %
Genes
67 % |
![]() By Exeter Molecular Genetics Laboratory (United Kingdom).
HES7
Specificity
100 %
Genes
34 % |
![]() 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 moreSources and references
You can check the following sources for additional information.
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