TBRG1 and acromelic dysplasia: Weill–Marchesani syndrome (WMS; MIM #277600) and the acromelic dysplasias (acromicric dysplasia [AD], MIM 102370; geleophysic dysplasia [GD], MIM 231050), caused by mutations in TB5, also have short stature, thick skin with abundant microfibrils, joint stiffness and ocular defects.