Congenital heart defects and skeletal malformations syndrome (CHDSKM) is characterized by atrial and ventricular septal defects, with aortic root dilation in adulthood. Skeletal defects are variable and include pectus excavatum, scoliosis, and finger contractures, and some patient exhibit joint laxity. Failure to thrive is observed during infancy and early childhood (Wang et al., 2017).
And another 23 symptoms. If you need more information about this disease we can help you.
Panel Name, Specifity and genes Tested/covered |
---|
![]() By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories (United States).
ABL1
Specificity
100 %
Genes
100 % |
![]() By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories (United States).
RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, FBXW7, CDKN2A, PHF6, ASXL1, CEBPA , (...)
View the complete list with 32 more genes
Specificity
2 %
Genes
100 % |
![]() By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories (United States).
RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, CBLC, FBXW7, CDKN2A, PHF6, CEBPA , (...)
View the complete list with 31 more genes
Specificity
2 %
Genes
100 % |
![]() By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
CDK12, ABL1
Specificity
50 %
Genes
100 % |
![]() By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
ABL1
Specificity
100 %
Genes
100 % |
![]() By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
DUSP22, ABL1, ABL2
Specificity
34 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
BCR, ABL1
Specificity
50 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
ABL1
Specificity
100 %
Genes
100 % |
You can check the following sources for additional information.
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