Rarely a patient is born with the presence of diabetes, hypothyroidism and glaucoma that is present in the neonatal period.
Inheritance: autosomal recessive
Chromosome: 9p24.2
Gene: GLIS3 (GLIS family zinc finger 3)
Function: transcription factor expressed in pancreas and involved in the development of the eyes, thyroid, kidneys and liver
Clinical features:
(1) intrauterine growth retardation (IUGR)
(1) neonatal diabetes
(2) congenital hypothyroidism
(3) congenital glaucoma
(4) hepatic fibrosis and/or cholestasis
(5) polycystic kidneys
(6) mild facial dysmorphism
(7) developmental delay
(8) feeding difficulties
(9) variable exocrine pancreas dysfunction
(10) variable skeletal abnormalities
