Neonatal Diabetes, Pancreatic Hypoplasia, Intestinal Atresia and Gallbladder Aplasia or Hypoplasia [OMIM#601346] also known as Mitchell-Riley syndrome is characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, and absent gallbladder. Patients do not have dysmorphic features. There is overlap between Mitchell-Riley syndrome and Martinez-Frias syndrome (which shares the same OMIM#). Patients with Martinez Frias syndrome were reported to also have oesophageal atresia and hypospadias and did not have diabetes, and discussion is ongoing as to whether these are two distinct syndromes, or variable manifestations of the same syndrome.
Mutations in the RFX6 [OMIM#612659] gene have been reported in patients with Mitchell-Riley syndrome. Missense, splicing and frameshift mutations in RFX6 have been described. RFX6 is a member of the regulatory factor X family of transcription factors.