We additionally reinforce the prevalence of thoracic insufficiency in Shwachman-Diamond syndrome, report the novel finding of pediatric scoliosis and thoracic insufficiency in Pfeiffer syndrome, expand the list of genes associated with short-rib thoracic dysplasia syndromes to include KIF7, and report the novel association of USP9X and thoracic insufficiency. Here, USP9X is linked to Shwachman-Diamond syndrome.