Spondylocostal Dysostosis 2, Autosomal Recessive; Scdo2

Table of contents:

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

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 ).

Genes related to Spondylocostal Dysostosis 2, Autosomal Recessive; Scdo2

MESP2

View recommended genes panels

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

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like POLYDACTYLY, POSTAXIAL, TYPE A1; PAPA1