Spondylocostal Dysostosis 2, Autosomal Recessive; Scdo2

Description

Spondylocostal dysostosis is a term given to a heterogeneous group of disorders characterized by abnormal vertebral segmentation. For a general phenotypic description and a discussion of genetic heterogeneity of the disorder, see SCDO1 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Spondylocostal Dysostosis 2, Autosomal Recessive; Scdo2

  • Short neck
  • Pneumonia
  • Recurrent respiratory infections
  • Respiratory failure
  • Vertebral segmentation defect
  • Disproportionate short-trunk short stature
  • Rib fusion
  • Restrictive deficit on pulmonary function testing

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 2, Autosomal Recessive; Scdo2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MESP2 - Jarcho-Levin.

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

MESP2
Specificity
100 %
Genes
100 %
MESP2 - Spondylocostal dysostosis 2.

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

MESP2
Specificity
100 %
Genes
100 %
MESP2. Complete sequencing.

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

MESP2
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 2 AR (sequence analysis of MESP2 gene).

By CGC Genetics (Portugal).

MESP2
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 %
MESP2-Related Spondylocostal Dysostosis, Autosomal Recessive.

By Exeter Molecular Genetics Laboratory (United Kingdom).

MESP2
Specificity
100 %
Genes
100 %

You can get up to 21 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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