Heterozygous point mutations and genomic deletions involving FOXF1 or its upstream enhancer have been reported in newborns with a lethal lung developmental disorder alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV, OMIM 265380) with or without defects involving heart, gastrointestinal, or genitourinary systems (Stankiewicz et al., 2009; Bishop et al., 2011; Sen et al., 2013). Here, FOXF1 is linked to alveolar capillary dysplasia with misalignment of pulmonary veins.