Surfactant metabolism dysfunction, pulmonary, 3 (SMDP3) is an autosomal recessive disorder characterized by failure to thrive, severe respiratory distress, tachypnea and surfactant deficiency. The initial clinical presentation is usually severe, and starts during the first year of life. However, onset of the condition may sometimes be delayed and the presentation may be later in infancy or childhood.
Diagnosis of the condition is done through chest radiography that shows granular, hazy, ground-glass interstitial opacifications in patients’ lungs. Most infants affected with the severe form of the disease die within the first months of life. However, patients with the milder form of the condition can survive into childhood, adolescence or even adulthood. The only curative treatment available is a lung transplant.