[MIM 601 346]

Extremely rare. Autosomal recessive transmission of a mutation of the RFX6 gene (6q22.1).

Association of:

-        hypoplasia of the pancreas

-        intestinal atresia

-        aplasia/hypoplasia of the gallbladder (or bile ducts)

-        frequent esotracheal fistula.

Close to the Mitchell-Riley syndrome where neonatal diabetes is present, without esotracheal fistula.

Anesthetic implications:

growth retardation, esotracheal fistula, cholestasis

References : 

-        Estefania-Fernandez K, Andrés A, Alcolea A, Velayos-Lopez M, Pastrian G et al.
First multivisceral transplantation in Mitchell-Riley/Martinez-Frias syndrome.
Pediatr Transplantation 2022 ; 26 e14270

Updated: August 2022