ACTC1 and left ventricular noncompaction: In summary, we identified five unrelated families with heterozygous pathogenic variants in ACTC1 resulting in multiple congenital contractures, webbed neck, scoliosis, short stature, and distinctive facial features as well as cardiac abnormalities, including atrial and ventricular septal defects, left ventricular noncompaction, and cardiomyopathy.