Congenital Heart Defects And Skeletal Malformations Syndrome; Chdskm

Table of contents:

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

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

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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.

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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.

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 Panel complete gene list RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, FBXW7, CDKN2A, PHF6, ASXL1, CEBPA, BCOR, ZRSR2, CSF3R, SMC3, CUX1, BCORL1, TET2, DNMT3A, ETV6, EZH2, FLT3, GATA1, GATA2, GNAS, HRAS, IDH1, IDH2, JAK2, JAK3, KIT, KRAS, MPL, MYD88, ABL1, NOTCH1, NPM1, NRAS, PDGFRA, ATRX, PTEN, PTPN11, RAD21 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 Panel complete gene list RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, CBLC, FBXW7, CDKN2A, PHF6, CEBPA, BCOR, ZRSR2, CSF3R, SMC3, CUX1, BCORL1, DNMT3A, ETV6, EZH2, FLT3, GATA1, GATA2, GNAS, HRAS, IDH1, IDH2, JAK2, JAK3, KIT, KRAS, MPL, MYD88, ABL1, NOTCH1, NPM1, NRAS, PDGFRA, ATRX, PTEN, PTPN11, RAD21 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 %

You can get up to 44 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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