Lung disease manifestations in Down syndrome

Am J Physiol Lung Cell Mol Physiol. 2021 Nov 1;321(5):L892-L899. doi: 10.1152/ajplung.00434.2020. Epub 2021 Sep 1.


Down syndrome (DS) is one of the most prevalent chromosomal abnormalities worldwide, 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 to the trachea/upper airways to the lower airways and alveolar spaces, as well as vascular and lymphatic defects. Most of our knowledge on respiratory illness in persons with DS arises from pediatric studies; however, many of these disorders present early in infancy, supporting developmental mechanisms. 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.

Keywords: Down syndrome; development; lung.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Child
  • Disease Progression*
  • Down Syndrome / complications
  • Down Syndrome / genetics*
  • Down Syndrome / metabolism*
  • Humans
  • Lung / metabolism*
  • Lung Diseases / complications
  • Lung Diseases / genetics
  • Lung Diseases / metabolism*
  • Phenotype