NDH syndrome is a rare disorder that has so far been reported in less than 20 individuals worldwide. It is characterized by intrauterine growth retardation, non-immune neonatal diabetes mellitus, congenital hypothyroidism and mild facial dysmorphism. Symptoms usually manifest in the first few weeks of life. Facial anomalies include a long philtrum, low set ears, epicanthal folds, a flat nasal bridge and a thin upper lip. Depending on the severity of the disorder, symptoms may also include polycystic kidneys, congenital glaucoma, hepatic fibrosis, osteopenia and sensorineural deafness.
Treatment of the disorder is based on stabilizing glucose and thyroid hormone levels by administering insulin and oral levothyroxine respectively. While severe forms of the disorder have led to the death of some patients in early childhood, patients with milder phenotypes have survived into adulthood.