Signs and symptoms are usually detectable prenatally or shortly after birth. In its severe manifestations, MSMDS has been associated with prune belly sequence. In less severe forms, the earliest signs of MSMDS are congenital fixed mydriasis (can be misdiagnosed as partial aniridia), and a PDA requiring surgical intervention. Most carriers of the mutation will eventually develop thoracic arterial disease between the ages of 10–25.
Multisystemic smooth muscle dysfunction syndrome
Esophageal motility disorder
Sphincter of Oddi dysfunction
Constriction ring syndrome
Diffuse esophageal spasm
Autoimmune autonomic ganglionopathy
Autoimmune gastrointestinal dysmotility
Exercise-induced laryngeal obstruction