Congenital Heart Defects and Skeletal Malformations Syndrome (CHDSKM)

Congenital Heart Defects and Skeletal Malformations Syndrome, also known as chdskm, is related to van den ende-gupta syndrome and contractural arachnodactyly, congenital. An important gene associated with Congenital Heart Defects and Skeletal Malformations Syndrome is ABL1 (ABL Proto-Oncogene 1, Non-Receptor Tyrosine Kinase). Affiliated tissues include heart and skin, and related phenotypes are failure to thrive and short stature