Congenital heart defects and skeletal malformations syndrome

A multiple congenital anomalies/dysmorphic syndrome caused by heterozygous germline gain-of-function variants in the ABL1 gene that increase ABL1 kinase activity. It is characterized by congenital heart disease, skeletal and joint abnormalities (including pectus excavatum, scoliosis, and hyperextensibility or contractures of the finger joints), variable dysmorphic facial features, and failure to thrive. It is allelic to, but distinct from, human ABL1 deficiency syndrome, which is caused by homozygous loss-of-function variants in ABL1.