This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Congenital mydriasis, patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy
Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypoperistalsis). A certain mutation in the ACTA2 gene has been shown to cause this condition in some individuals.