/neonatal diabetes mellitus with congenital hypothyroidism

neonatal diabetes mellitus with congenital hypothyroidism

Rare Disease

MONDO:0012436

Also Known As

NDH syndromeneonatal diabetes mellitus with congenital hypothyroidismNDHNdh syndromediabetes mellitus, neonatal, with congenital hypothyroidismneonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome

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