Mungan syndrome was first defined in 2003 by Mungan et al. (Mungan et al. 2003) as an autosomal recessive disease. They reported a large consanguineous family from Turkey with chronic idiopathic intestinal pseudo-obstruction. Three children of this family, two brothers aged 26 and 28, and a sister aged 30, complained of recurrent abdominal pain and pseudo-obstruction since childhood. Further medical observations showed hypomotility, long-segment Barrett esophagus, and delayed gastric emptying in upper endoscopy, Additionally, delayed emptying and megaduodenum were shown in barium small-bowel enema. Cardiologic examinations of these three siblings revealed cardiac murmurs and different valve stenosis and regurgitation defects in the sister and 26-year-old brother, and a membranous ventricular septal defect in the 28-year-old brother. In addition, epilepsy, glaucoma, and otosclerosis were observed in the 26-year-old brother, and bilateral ptosis in the 28-year-old one. Two cousins in this family, who were also born to consanguineous parents, died at ages 15 and 19, and they had also complained of gastrointestinal problems in their childhood. Another study conducted in 2007 by Deglincerti et al. (Deglincerti et al. 2007) demonstrated chronic idiopathic intestinal pseudo-obstruction, unspecified granulomatous, vesicoureteral reflux, renal hypoplasia, hepatitis, and ascites in medical records of a child who died at 15 years. Extra examinations in this family, such as intestinal biopsies, showed neural and muscular abnormalities.