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).

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.


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Congenital Heart Defects And Skeletal Malformations Syndrome; Chdskm Recommended genes panels

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BCR-ABL1 Kinase Domain Mutation Analysis.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories (United States).

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RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, FBXW7, CDKN2A, PHF6, ASXL1, CEBPA , (...)

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MyeloidDx by NGS.

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CHOP Heme Panel.

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CHOP Cancer Fusion Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

DUSP22, ABL1, ABL2
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BCR/ABL (p210) quantification.

By CGC Genetics (Portugal).

BCR, ABL1
Specificity
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RT-sequencing BCR/ABL.

By CGC Genetics (Portugal).

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Sources and references

You can check the following sources for additional information.

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