[MIM 610 199]

(NDH syndrome)

Unknown prevalence: very rare. Autosomal recessive transmission of a mutation of the GLIS3 gene(9p24.).

Association of:

-        intrauterine growth retardation

-        congenital hypothyroidism: absence of thyroid gland or gland fibrosis

-        diabetes mellitus of non-immune origin that appears in the first weeks of life; exocrine pancreatic insufficiency is associated in some cases

-        facial dysmorphism (inconstant): low-set ears, long philtrum with thin upper lip, epicanthus

-        renal involvement: cystic dysplasia

-        hepatic involvement: hepatitis or fibrosis leading to cirrhosis

-        developmental delay

-        sometimes: glaucoma

Anesthetic implications:

check thyroid function; complex insulinotherapy and monitoring of glycemia; check renal and hepatic functions.

References :

Updated: April 2017