Congenital Heart Defects And Skeletal Malformations Syndrome; Chdskm
Description
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).
Genes related to Congenital Heart Defects And Skeletal Malformations Syndrome; Chdskm
- ABL1
Clinical Features
Top most frequent phenotypes and symptoms related to Congenital Heart Defects And Skeletal Malformations Syndrome; Chdskm
- Scoliosis
- Failure to thrive
- Abnormal facial shape
- Flexion contracture
- Intrauterine growth retardation
- Abnormality of the skeletal system
- Ventricular septal defect
- Atrial septal defect
- Short nose
- Pectus excavatum
And another 23 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— 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.
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Congenital Heart Defects And Skeletal Malformations Syndrome; Chdskm Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
 BCR-ABL1 Kinase Domain Mutation Analysis.
By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories (United States).
ABL1
Specificity
100 %
Genes
100 % |
|
MyeloidDx by NGS.
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 % |
|
MyeloidDx by NGS.
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 % |
|
CHOP Solid Tumors Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
CDK12, ABL1
Specificity
50 %
Genes
100 % |
|
CHOP Heme Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
ABL1
Specificity
100 %
Genes
100 % |
|
CHOP Cancer Fusion Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
DUSP22, ABL1, ABL2
Specificity
34 %
Genes
100 % |
 BCR/ABL (p210) quantification.
By CGC Genetics (Portugal).
BCR, ABL1
Specificity
50 %
Genes
100 % |
|
RT-sequencing BCR/ABL.
By CGC Genetics (Portugal).
ABL1
Specificity
100 %
Genes
100 % |
Sources and references
You can check the following sources for additional information.
OMIM Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WHITE SPONGE NEVUS 1; WSN1 PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY; PDHPD GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS BRUGADA SYNDROME 2; BRGDA2 TRICHOHEPATOENTERIC SYNDROME 1; THES1
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