To generate a list of genes that are known to underlie syndromes of abnormal skeletal growth, we queried the Online Mendelian Inheritance in Man database (OMIM; https://www.omim.org/). From July 2019 to August 2020, we performed queries using search terms of “short stature”, “tall stature”, “overgrowth”, “skeletal dysplasia” and “brachydactyly.” We then used the free text descriptions in OMIM to manually curate the resulting combined list of genes, as well as genes in our earlier list from Wood et al.20 and all genes listed as causing skeletal disease in an online endocrine textbook (https://www.endotext.org/, accessed September 2020). For short stature, we only included genes that underlie syndromes in which short stature was either consistent (less than −2 s.d. in the vast majority of patients with data recorded), or present in multiple families or sibships and accompanied by (a) more severe short stature (−3 s.d.), (b) presence of skeletal dysplasia (beyond poor bone quality/fractures); or (c) presence of brachydactyly, shortened digits, disproportionate short stature or limb shortening (not simply absence of specific bones). We removed genes underlying syndromes in which short stature
