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

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