Intestinal dysmotility syndrome (IDMTS) is an extremely rare autosomal recessive fatal neonatal disease characterized by projectile vomiting, bloody diarrhea, and distended abdomen with multiple distended intestinal loops on imaging. It has been reported that mutations in ANO1 cause this disease. ANO1 encodes TMEM16A, a calcium-activated chloride channel. TMEM16A is expressed secretory epithelia, smooth muscle cells, and neurons, especially on specialized cells located in the myenteric plexus, the interstitial cells of Cajal.
