The same phenotype can be caused by monoallelic variants in FBN1 (encoding fibrillin 1) or LTBP3 (encoding latent transforming growth factor-beta-binding protein 3), which are referred to as geleophysic dysplasia type 2 (GD2) and type 3 (GD3), respectively (6, 7). The gene discussed is LTBP3; the disease is geleophysic dysplasia 2.