De novo ABL1 missense variant in congenital heart defects and skeletal malformations syndrome with EDS-like cutaneous laxity

Congenital heart defects and skeletal malformations syndrome (CHDSKM) is a rare disorder caused by gain-of-function variants in ABL1. We report a 13-year-old boy with EDS-like features including skin laxity, joint hyperextensibility, arachnodactyly, and kyphoscoliosis. Whole-exome sequencing identified a de novo ABL1 variant (p.P249S). This case highlights the importance of distinguishing CHDSKM from EDS because of associated cardiovascular risks requiring long-term surveillance.