
Down Syndrome (DS) is one of the most prevalent chromosomal abnormalities world-wide, affecting 1 in 700 live births. Although multiple organ systems are affected by the chromosomal defects, respiratory failure and lung disease are the leading causes of morbidity and mortality observed in DS. Manifestations of DS in the respiratory system encompass the entire lung starting from the nasopharynx, trachea/upper airways to the lower airways and alveolar spaces, as well as vascular and lymphatic defects. In this review we will focus on the different lung phenotypes in DS, as well as the genetic and molecular pathways that may be contributing to these complications during development.
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