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 was likely to be attributable to failure to thrive, specific metabolic disturbances, intestinal failure or enteropathy and/or very severe disease (for example, early lethality or severe neurological disease). For tall stature or overgrowth, we only included genes underlying syndromes in which tall stature was consistent (more than +2 s.d. in the vast majority of patients with data recorded) or present in multiple families or sibships and accompanied by either (a) more severe tall stature (>+3 s.d.) or (b) arachnodactyly. For brachydactyly, we required more than only fifth finger involvement, and that brachydactyly be either consistent (present in the vast majority of patients) or accompanied by consistent short stature or other skeletal dysplasias. For skeletal dysplasias, we only considered genes that underlie syndromes in which the skeletal dysplasia involved long bones or the spine and was accompanied by short stature, brachydactyly or limb or digit shortening. We also included all genes in a list we generated in Lango Allen et al.19,
