Neonatal diabetes mellitus with congenital hypothyroidism
Neonatal diabetes mellitus with congenital hypothyroidism
Definition
A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others
Also known as NDH syndrome, neonatal diabetes mellitus with congenital hypothyroidism — per MONDO