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GTR Home > Conditions/Phenotypes > Congenital heart defects and skeletal malformations syndrome

Congenital heart defects and skeletal malformations syndrome

Summary

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 patients exhibit joint laxity. Failure to thrive is observed during infancy and early childhood (Wang et al., 2017). [from OMIM]

Available tests

8 tests are in the database for this condition.

Clinical tests (8 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ABL, BCR-ABL, CHDSKM, JTK7, bcr/abl, c-ABL, c-ABL1, p150, v-abl, ABL1
    Summary: ABL proto-oncogene 1, non-receptor tyrosine kinase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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